Case Reports

Phlegmasia cerulea dolens (PCD), a life-threatening complication of deep venous thrombosis (DVT), is characterized by massive iliofemoral thrombus that extends to the collateral veins, leading to fluid sequestration and elevated compartment pressures that ultimately compromise arterial flow. Phlegmasia cerulea dolens can rapidly progress to compartment syndrome and gangrene.^1,2 The affected limbs of patients with PCD can be hypoxic and appear purple in color due to substantial lack of blood flow, with diminished or absent pulses. Risk factors for PCD include malignancy, hypercoagulable states, venous stasis, contraceptive agents, inferior vena cava (IVC) filter, aneurysm, history of DVT, trauma, heparin-induced thrombocytopenia, femoral vein catheterization, antiphospholipid syndrome, or pregnancy.^3-6 Failure to treat PCD early and aggressively carries an amputation rate of up to 50% and a mortality rate of up to 40%.⁴

We present the case of a patient with PCD, whose condition rapidly deteriorated despite prompt diagnosis and treatment.

Case

A 58-year-old woman presented to the ED with a 1-day history of back and leg pain and difficulty walking. When asked about the severity of her pain, she rated her leg pain at 10 on a scale of 0 to 10. The patient’s history was significant for DVT and pulmonary embolism (PE), for which a Greenfield IVC had been placed and for which she was on prophylactic warfarin therapy. The patient stated that she had been taken off warfarin several weeks prior to presentation in preparation for an elective colonoscopy and dental procedure, but had restarted the warfarin therapy 2 days prior to presentation. She had no history of diabetes mellitus or renal disease.

Initial vital signs at presentation were: blood pressure, 120/91 mm Hg; heart rate, 110 beats/min; respiratory rate, 24 breaths/min; and temperature, 96.6°F. Oxygen saturation was 100% on a nonrebreather mask.

On examination, the patient was alert and oriented to person, time, and place, but appeared dyspneic. An electrocardiogram revealed sinus tachycardia. On physical examination, lung sounds were clear to auscultation bilaterally with good air movement, and the abdomen was soft and nontender with normal bowel sounds. The dorsalis pedis and posterior tibial pulses were absent bilaterally, lower extremity capillary refill was 3 seconds, and the legs appeared mildly erythematous and cool to touch. No speech or neurological deficits were present.

Laboratory evaluation was remarkable for metabolic acidosis, venous pH, 7.11; bicarbonate, 11.7; partial pressure of carbon dioxide, 37.6; lactic acid, 8.8 mEq/L leukocytosis, 24,900 u/L; glucose, 296 mg/dL; creatinine, 2.41 mg/dL; and international normalized ratio, 1.36.

Before additional laboratory studies and imaging could be obtained, the patient developed altered mental status, hypotension, and paralysis of the lower extremities. She was orally intubated for airway protection and was given a total of 4 L of normal saline intravenously (IV) for hypotension and acidosis; sodium bicarbonate for metabolic acidosis; norepinephrine for hypotension; fentanyl for pain; and ondansetron for nausea. A central line and arterial line were placed for administering medication and hemodynamic monitoring.

Discussion

This case illustrates the severity and complications of PCD and the rapidity with which this condition can deteriorate. At the time of ED presentation, the patient had already developed bilateral PCD, metabolic acidosis, and bilateral PE. Unfortunately, due to decreased venous return, decreased cardiac output, and severe shock, she quickly became unstable and progressed rapidly to multisystem organ failure leading to death.

Risk Factors

A prior patient history DVT and an IVC filter are both significant risk factors for the progression of DVT to PCD;^3,6 however, in this case, IVC filter failed to prevent emboli from reaching the lungs. Extensive thrombi led to severely decreased venous return and cardiac output, causing life-threatening shock, ischemia, and metabolic acidosis. A lactic acid level taken on hospital day 2 was elevated at 19 mEq/L, demonstrating the severity, morbidity, and progression of PCD.

Signs and Symptoms

The three cardinal signs that lead to a clinical diagnosis of PCD are edema, pain, and violaceous discoloration or skin mottling.³ Although most commonly found in the lower extremity, PCD can occur in any limb due to occlusion of venous outflow.⁷ Unfortunately, a clinical diagnosis of PCD is not often made until the venous occlusion becomes severe enough to impair arterial flow and cause venous gangrene, tissue ischemia, shock, and death.⁸

Although IVC filters are designed to prevent life-threatening PE, there are risk factors associated with their use. Whether placed recently or decades prior, urgent investigation, such as immediate CT scan, should be undertaken in patients presenting with DVT-like symptoms who have a history of an IVC filter, to ensure the filter has not shifted from its original placement and is not occluding the IVC.

Conclusion

Phlegmasia cerulea dolens is an uncommon vascular emergency, but one that has a high-morbidity and high-mortality rate. This case demonstrates the importance of early diagnosis, aggressive treatment, and the severe complications that can develop in PCD.

There are cases in the literature where patients diagnosed with PCD had a successful outcome with pharmacological or surgical intervention such as thrombectomy. Treatment for PCD is most effective when instituted early in onset. As seen in our patient, the tendency for rapid deterioration in PCD can limit potentially lifesaving therapeutic options, decreasing the chances of a successful outcome. Emergency physicians, therefore, must be aware of the high-mortality rate associated with this disorder and the possibility of rapid progression from stable to critical condition.

Phlegmasia cerulea dolens (PCD), a life-threatening complication of deep venous thrombosis (DVT), is characterized by massive iliofemoral thrombus that extends to the collateral veins, leading to fluid sequestration and elevated compartment pressures that ultimately compromise arterial flow. Phlegmasia cerulea dolens can rapidly progress to compartment syndrome and gangrene.^1,2 The affected limbs of patients with PCD can be hypoxic and appear purple in color due to substantial lack of blood flow, with diminished or absent pulses. Risk factors for PCD include malignancy, hypercoagulable states, venous stasis, contraceptive agents, inferior vena cava (IVC) filter, aneurysm, history of DVT, trauma, heparin-induced thrombocytopenia, femoral vein catheterization, antiphospholipid syndrome, or pregnancy.^3-6 Failure to treat PCD early and aggressively carries an amputation rate of up to 50% and a mortality rate of up to 40%.⁴

We present the case of a patient with PCD, whose condition rapidly deteriorated despite prompt diagnosis and treatment.

Case

A 58-year-old woman presented to the ED with a 1-day history of back and leg pain and difficulty walking. When asked about the severity of her pain, she rated her leg pain at 10 on a scale of 0 to 10. The patient’s history was significant for DVT and pulmonary embolism (PE), for which a Greenfield IVC had been placed and for which she was on prophylactic warfarin therapy. The patient stated that she had been taken off warfarin several weeks prior to presentation in preparation for an elective colonoscopy and dental procedure, but had restarted the warfarin therapy 2 days prior to presentation. She had no history of diabetes mellitus or renal disease.

Initial vital signs at presentation were: blood pressure, 120/91 mm Hg; heart rate, 110 beats/min; respiratory rate, 24 breaths/min; and temperature, 96.6°F. Oxygen saturation was 100% on a nonrebreather mask.

On examination, the patient was alert and oriented to person, time, and place, but appeared dyspneic. An electrocardiogram revealed sinus tachycardia. On physical examination, lung sounds were clear to auscultation bilaterally with good air movement, and the abdomen was soft and nontender with normal bowel sounds. The dorsalis pedis and posterior tibial pulses were absent bilaterally, lower extremity capillary refill was 3 seconds, and the legs appeared mildly erythematous and cool to touch. No speech or neurological deficits were present.

Laboratory evaluation was remarkable for metabolic acidosis, venous pH, 7.11; bicarbonate, 11.7; partial pressure of carbon dioxide, 37.6; lactic acid, 8.8 mEq/L leukocytosis, 24,900 u/L; glucose, 296 mg/dL; creatinine, 2.41 mg/dL; and international normalized ratio, 1.36.

Before additional laboratory studies and imaging could be obtained, the patient developed altered mental status, hypotension, and paralysis of the lower extremities. She was orally intubated for airway protection and was given a total of 4 L of normal saline intravenously (IV) for hypotension and acidosis; sodium bicarbonate for metabolic acidosis; norepinephrine for hypotension; fentanyl for pain; and ondansetron for nausea. A central line and arterial line were placed for administering medication and hemodynamic monitoring.

Discussion

This case illustrates the severity and complications of PCD and the rapidity with which this condition can deteriorate. At the time of ED presentation, the patient had already developed bilateral PCD, metabolic acidosis, and bilateral PE. Unfortunately, due to decreased venous return, decreased cardiac output, and severe shock, she quickly became unstable and progressed rapidly to multisystem organ failure leading to death.

Risk Factors

A prior patient history DVT and an IVC filter are both significant risk factors for the progression of DVT to PCD;^3,6 however, in this case, IVC filter failed to prevent emboli from reaching the lungs. Extensive thrombi led to severely decreased venous return and cardiac output, causing life-threatening shock, ischemia, and metabolic acidosis. A lactic acid level taken on hospital day 2 was elevated at 19 mEq/L, demonstrating the severity, morbidity, and progression of PCD.

Signs and Symptoms

The three cardinal signs that lead to a clinical diagnosis of PCD are edema, pain, and violaceous discoloration or skin mottling.³ Although most commonly found in the lower extremity, PCD can occur in any limb due to occlusion of venous outflow.⁷ Unfortunately, a clinical diagnosis of PCD is not often made until the venous occlusion becomes severe enough to impair arterial flow and cause venous gangrene, tissue ischemia, shock, and death.⁸

Although IVC filters are designed to prevent life-threatening PE, there are risk factors associated with their use. Whether placed recently or decades prior, urgent investigation, such as immediate CT scan, should be undertaken in patients presenting with DVT-like symptoms who have a history of an IVC filter, to ensure the filter has not shifted from its original placement and is not occluding the IVC.

Conclusion

Phlegmasia cerulea dolens is an uncommon vascular emergency, but one that has a high-morbidity and high-mortality rate. This case demonstrates the importance of early diagnosis, aggressive treatment, and the severe complications that can develop in PCD.

There are cases in the literature where patients diagnosed with PCD had a successful outcome with pharmacological or surgical intervention such as thrombectomy. Treatment for PCD is most effective when instituted early in onset. As seen in our patient, the tendency for rapid deterioration in PCD can limit potentially lifesaving therapeutic options, decreasing the chances of a successful outcome. Emergency physicians, therefore, must be aware of the high-mortality rate associated with this disorder and the possibility of rapid progression from stable to critical condition.

Phlegmasia cerulea dolens (PCD), a life-threatening complication of deep venous thrombosis (DVT), is characterized by massive iliofemoral thrombus that extends to the collateral veins, leading to fluid sequestration and elevated compartment pressures that ultimately compromise arterial flow. Phlegmasia cerulea dolens can rapidly progress to compartment syndrome and gangrene.^1,2 The affected limbs of patients with PCD can be hypoxic and appear purple in color due to substantial lack of blood flow, with diminished or absent pulses. Risk factors for PCD include malignancy, hypercoagulable states, venous stasis, contraceptive agents, inferior vena cava (IVC) filter, aneurysm, history of DVT, trauma, heparin-induced thrombocytopenia, femoral vein catheterization, antiphospholipid syndrome, or pregnancy.^3-6 Failure to treat PCD early and aggressively carries an amputation rate of up to 50% and a mortality rate of up to 40%.⁴

We present the case of a patient with PCD, whose condition rapidly deteriorated despite prompt diagnosis and treatment.

Case

A 58-year-old woman presented to the ED with a 1-day history of back and leg pain and difficulty walking. When asked about the severity of her pain, she rated her leg pain at 10 on a scale of 0 to 10. The patient’s history was significant for DVT and pulmonary embolism (PE), for which a Greenfield IVC had been placed and for which she was on prophylactic warfarin therapy. The patient stated that she had been taken off warfarin several weeks prior to presentation in preparation for an elective colonoscopy and dental procedure, but had restarted the warfarin therapy 2 days prior to presentation. She had no history of diabetes mellitus or renal disease.

Initial vital signs at presentation were: blood pressure, 120/91 mm Hg; heart rate, 110 beats/min; respiratory rate, 24 breaths/min; and temperature, 96.6°F. Oxygen saturation was 100% on a nonrebreather mask.

On examination, the patient was alert and oriented to person, time, and place, but appeared dyspneic. An electrocardiogram revealed sinus tachycardia. On physical examination, lung sounds were clear to auscultation bilaterally with good air movement, and the abdomen was soft and nontender with normal bowel sounds. The dorsalis pedis and posterior tibial pulses were absent bilaterally, lower extremity capillary refill was 3 seconds, and the legs appeared mildly erythematous and cool to touch. No speech or neurological deficits were present.

Laboratory evaluation was remarkable for metabolic acidosis, venous pH, 7.11; bicarbonate, 11.7; partial pressure of carbon dioxide, 37.6; lactic acid, 8.8 mEq/L leukocytosis, 24,900 u/L; glucose, 296 mg/dL; creatinine, 2.41 mg/dL; and international normalized ratio, 1.36.

Before additional laboratory studies and imaging could be obtained, the patient developed altered mental status, hypotension, and paralysis of the lower extremities. She was orally intubated for airway protection and was given a total of 4 L of normal saline intravenously (IV) for hypotension and acidosis; sodium bicarbonate for metabolic acidosis; norepinephrine for hypotension; fentanyl for pain; and ondansetron for nausea. A central line and arterial line were placed for administering medication and hemodynamic monitoring.

Discussion

This case illustrates the severity and complications of PCD and the rapidity with which this condition can deteriorate. At the time of ED presentation, the patient had already developed bilateral PCD, metabolic acidosis, and bilateral PE. Unfortunately, due to decreased venous return, decreased cardiac output, and severe shock, she quickly became unstable and progressed rapidly to multisystem organ failure leading to death.

Risk Factors

A prior patient history DVT and an IVC filter are both significant risk factors for the progression of DVT to PCD;^3,6 however, in this case, IVC filter failed to prevent emboli from reaching the lungs. Extensive thrombi led to severely decreased venous return and cardiac output, causing life-threatening shock, ischemia, and metabolic acidosis. A lactic acid level taken on hospital day 2 was elevated at 19 mEq/L, demonstrating the severity, morbidity, and progression of PCD.

Signs and Symptoms

The three cardinal signs that lead to a clinical diagnosis of PCD are edema, pain, and violaceous discoloration or skin mottling.³ Although most commonly found in the lower extremity, PCD can occur in any limb due to occlusion of venous outflow.⁷ Unfortunately, a clinical diagnosis of PCD is not often made until the venous occlusion becomes severe enough to impair arterial flow and cause venous gangrene, tissue ischemia, shock, and death.⁸

Although IVC filters are designed to prevent life-threatening PE, there are risk factors associated with their use. Whether placed recently or decades prior, urgent investigation, such as immediate CT scan, should be undertaken in patients presenting with DVT-like symptoms who have a history of an IVC filter, to ensure the filter has not shifted from its original placement and is not occluding the IVC.

Conclusion

Phlegmasia cerulea dolens is an uncommon vascular emergency, but one that has a high-morbidity and high-mortality rate. This case demonstrates the importance of early diagnosis, aggressive treatment, and the severe complications that can develop in PCD.

There are cases in the literature where patients diagnosed with PCD had a successful outcome with pharmacological or surgical intervention such as thrombectomy. Treatment for PCD is most effective when instituted early in onset. As seen in our patient, the tendency for rapid deterioration in PCD can limit potentially lifesaving therapeutic options, decreasing the chances of a successful outcome. Emergency physicians, therefore, must be aware of the high-mortality rate associated with this disorder and the possibility of rapid progression from stable to critical condition.

Facial paralysis is a common medical complaint—one that has fascinated ancient and contemporary physicians alike.¹ An idiopathic facial nerve paresis involving the lower motor neuron was described in 1821 by Sir Charles Bell. This entity became known as a Bell’s palsy, the hallmark of which was weakness or complete paralysis of the muscles of one side of the face, with no sparing of the muscles of the forehead. However, not all facial paralysis is due to Bell’s palsy.

We present a case of a patient with a Bell’s palsy mimic to facilitate and guide the differential diagnosis and distinguish conditions from the classical presentation that Bell first described to the more concerning symptoms that may not be immediately obvious. Our case further underscores the importance of performing a thorough assessment to determine the presence of other neurological findings.

Case

A 61-year-old woman presented to the ED for evaluation of right facial droop and sensation of “room spinning.” The patient stated both symptoms began approximately 36 hours prior to presentation, upon awakening. She further noted that the right side of her face felt “funny” and numb.

The patient denied any headache, neck or chest pain, extremity numbness, or weakness, but stated that she felt like she was going to fall toward her right side whenever she attempted to walk. The patient’s medical history was significant for hypertension, for which she was taking losartan. Her surgical history was notable for a left oophorectomy secondary to an ovarian cyst. Regarding the social history, the patient admitted to smoking 90 packs of cigarettes per year, but denied alcohol or illicit drug use.

Upon arrival at the ED, the patient’s vital signs were: blood pressure, 164/86 mm Hg: pulse, 89 beats/min; respiratory rate, 18 breaths/min; and temperature, 98.6°F. Oxygen saturation was 98% on room air.

Physical examination revealed the patient had a right facial droop consistent with right facial palsy. She was unable to wrinkle her right forehead or fully close her right eye. There were no field cuts on confrontation. The patient’s speech was noticeable for a mild dysarthria. The motor examination revealed mild weakness of the left upper extremity and impaired right facial sensation. There were no rashes noted on the face, head, or ears. The patient had slightly impaired hearing in the right ear, which was new in onset. The remainder of the physical examination was unremarkable.

Although the patient exhibited the classic signs of Bell’s palsy, including complete paralysis of the muscles of one side of the face, inability to wrinkle the muscle of the right forehead, and inability to fully close the right eye, she also had concerning symptoms of vertigo, dysarthria, and contralateral upper extremity weakness.

A computed tomography (CT) scan of the head was ordered, which revealed a large mass lesion centered in the right petrous apex, with an associated large component extending medially into the right cerebellopontine angle (CPA) that caused a mass effect on the adjacent brainstem (Figures 1a and 1b).

Discussion

Accounts of facial paralysis and facial nerve disorders have been noted throughout history and include accounts of the condition by Hippocrates.¹ Bell’s palsy was named after surgeon Sir Charles Bell, who described a peripheral-nerve paralysis of the facial nerve in 1821. Bell’s work helped to elucidate the anatomy and functional role of the facial nerve.^1,2

Signs and Symptoms

The classic presentation of Bell’s palsy is weakness or complete paralysis of the muscles of one side of the face, with no sparing of the muscles of the forehead. The eyelid on the affected side generally does not close, which can result in ocular irritation due to ineffective lubrication.

A scoring system has been developed by House and Brackmann which grades the degree impairment based on such characteristics as facial muscle function and eye closure.^3,4 Approximately 96% of patients with a Bell’s palsy will improve to a House-Brackmann score of 2 or better within 1 year from diagnosis,⁵ and 85% of patients with Bell’s palsy will show at least some improvement within 3 weeks of onset (Table).² Although the classic description of Bell’s palsy notes the condition as idiopathic, there is an increasing body of evidence in the literature showing a link to herpes simplex virus 1.^5-7

Ramsey-Hunt Syndrome

The relationship between Bell’s palsy and Ramsey-Hunt syndrome is complex and controversial. Ramsey-Hunt syndrome is a constellation of possible complications from varicella-virus infection. Symptoms of Ramsey-Hunt syndrome include facial paralysis, tinnitus, hearing loss, vertigo, hyperacusis (increased sensitivity to certain frequencies and volume ranges of sound), and decreased ocular tearing.⁸ Due to the nature of symptoms associated with Ramsey-Hunt syndrome, it is apparent that the condition involves more than the seventh cranial nerve. In fact, studies have shown that Ramsey-Hunt syndrome can affect the fifth, sixth, eighth, and ninth cranial nerves.⁸

Ramsey-Hunt syndrome, which can present in the absence of cutaneous rash (referred to as zoster sine herpete), is estimated to occur in 8% to 20% of unilateral facial nerve palsies in adult patients.^8,9 Regardless of the etiology of Bell’s palsy, a review of the literature makes it clear that facial nerve paralysis is not synonymous with Bell’s palsy.¹⁰ In one example, Yetter et al¹⁰ describe the case of a patient who, though initially diagnosed with Bell’s palsy, ultimately was found to have a facial palsy due to a parotid gland malignancy.

Likewise, Stomeo¹¹ describes a case of a patient with facial paralysis and profound ipsilateral hearing loss who ultimately was found to have a mucoepithelial carcinoma of the parotid gland. In their report, the authors note that approximately 80% of facial nerve paralysis is due to Bell’s palsy, while 5% is due to malignancy.

In another report, Clemis¹² describes a case in which a patient who initially was diagnosed with Bell’s palsy eventually was found to have an adenoid cystic carcinoma of the parotid. Thus, the authors appropriately emphasize in their report that “all that palsies is not Bell’s.”

Differential Diagnosis

Historical factors, including timing and duration of symptom onset, help to distinguish a Bell’s palsy from other disorders that can mimic this condition. In their study, Brach VanSwewaringen¹³ highlight the fact that “not all facial paralysis is Bell’s palsy.” In their review, the authors describe clues to help distinguish conditions that mimic Bell’s palsy. For example, maximal weakness from Bell’s Palsy typically occurs within 3 to 7 days from symptom onset, and that a more gradual onset of symptoms, with slow or negligible improvement over 6 to 12 months, is more indicative of a space-occupying lesion than Bell’s palsy.¹³It is, however, important to note that although the patient in our case had a central lesion, she experienced an acute onset of symptoms.

The presence of additional symptoms may also suggest an alternative diagnosis. Brach and VanSwearingen¹³ further noted that symptoms associated with the eighth nerve, such as vertigo, tinnitus, and hearing loss may be found in patients with a CPA tumor. In patients with larger tumors, ninth and 10th nerve symptoms, including the impaired hearing noted in our patient, may be present. Some patients with ninth and 10th nerve symptoms may perceive a sense of facial numbness, but actual sensory changes in the facial nerve distribution are unlikely in Bell’s palsy. Gustatory changes, however, are consistent with Bell’s palsy.

Ear pain is consistent with Bell’s palsy and is a signal to be vigilant for the possible emergence of an ear rash, which would suggest the diagnosis of herpes zoster oticus along the trajectory of Ramsey-Hunt syndrome. Facial pain in the area of the facial nerve is inconsistent with Bell’s palsy, while hyperacusis is consistent with Bell’s palsy. Hearing loss is an eighth nerve symptom that is inconsistent with Bell’s palsy.

Similarly, there are physical examination findings that can help distinguish a true Bell’s palsy from a mimic. Changes in tear production are consistent with Bell’s palsy, but imbalance and disequilibrium are not.¹⁴

As previously noted, the patient in this case had difficulty walking and felt as if she was falling toward her right side.

One way to organize the causes of facial paralysis has been proposed by Adour et al.¹⁵ In this system, etiologies are listed as either acute paralysis or chronic, progressive paralysis. Acute paralysis (ie, the sudden onset of symptoms with maximal severity within 2 weeks), of which Bell’s palsy is the most common, can be seen in cases of polyneuritis.

A new case of Bell’s palsy has been estimated to occur in the United States every 10 minutes.⁸ Guillain-Barré syndrome and Lyme disease are also in this category, as is Ramsey-Hunt syndrome. Patients with Lyme disease may have a history of a tick bite or rash.¹⁴

Trauma can also cause acute facial nerve paralysis (eg, blunt trauma-associated facial fracture, penetrating trauma, birth trauma). Unilateral central facial weakness can have a neurological cause, such as a lesion to the contralateral cortex, subcortical white matter, or internal capsule.^2,15 Otitis media can sometimes cause facial paralysis.¹⁶ A cholesteatoma can cause acute facial paralysis.² Malignancies cause 5% of all cases of facial paralysis. Primary parotid tumors of various types are in this category. Metastatic disease from breast, lung, skin, colon, and kidney may cause facial paralysis. As our case illustrates, CPA tumors can cause facial paralysis.¹⁵ It is important to also note that a patient can have both a Bell’s palsy and a concurrent disease. There are a number of case reports in the literature that describe acute onset of facial paralysis as a presenting symptom of malignancy.¹⁷ In addition, there are cases wherein a neurological finding on imaging, such as an acoustic neuroma, was presumed to be the cause of facial paralysis, yet the patient’s symptoms resolved in a manner consistent with Bell’s palsy.¹⁸

For example, Lagman et al¹⁹ described a patient in which a CPA lipoma was presumed to be the cause of the facial paralysis, but the eventual outcome showed the lipoma to have been an incidentaloma.

Conclusion

This case demonstrates a presenting symptom of facial palsy and the presence of a CPA tumor. The presence of vertigo along with other historical and physical examination findings inconsistent with Bell’s palsy prompted the CT scan of the head. A review of the literature suggests a number of important findings in patients with facial palsy to assist the clinician in distinguishing true Bell’s palsy from other diseases that can mimic this condition. This case serves as a reminder of the need to perform a thorough and diligent workup to determine the presence or absence of other neurologic findings prior to closing on the diagnosis of Bell’s palsy.

Facial paralysis is a common medical complaint—one that has fascinated ancient and contemporary physicians alike.¹ An idiopathic facial nerve paresis involving the lower motor neuron was described in 1821 by Sir Charles Bell. This entity became known as a Bell’s palsy, the hallmark of which was weakness or complete paralysis of the muscles of one side of the face, with no sparing of the muscles of the forehead. However, not all facial paralysis is due to Bell’s palsy.

We present a case of a patient with a Bell’s palsy mimic to facilitate and guide the differential diagnosis and distinguish conditions from the classical presentation that Bell first described to the more concerning symptoms that may not be immediately obvious. Our case further underscores the importance of performing a thorough assessment to determine the presence of other neurological findings.

Case

A 61-year-old woman presented to the ED for evaluation of right facial droop and sensation of “room spinning.” The patient stated both symptoms began approximately 36 hours prior to presentation, upon awakening. She further noted that the right side of her face felt “funny” and numb.

The patient denied any headache, neck or chest pain, extremity numbness, or weakness, but stated that she felt like she was going to fall toward her right side whenever she attempted to walk. The patient’s medical history was significant for hypertension, for which she was taking losartan. Her surgical history was notable for a left oophorectomy secondary to an ovarian cyst. Regarding the social history, the patient admitted to smoking 90 packs of cigarettes per year, but denied alcohol or illicit drug use.

Upon arrival at the ED, the patient’s vital signs were: blood pressure, 164/86 mm Hg: pulse, 89 beats/min; respiratory rate, 18 breaths/min; and temperature, 98.6°F. Oxygen saturation was 98% on room air.

Physical examination revealed the patient had a right facial droop consistent with right facial palsy. She was unable to wrinkle her right forehead or fully close her right eye. There were no field cuts on confrontation. The patient’s speech was noticeable for a mild dysarthria. The motor examination revealed mild weakness of the left upper extremity and impaired right facial sensation. There were no rashes noted on the face, head, or ears. The patient had slightly impaired hearing in the right ear, which was new in onset. The remainder of the physical examination was unremarkable.

Although the patient exhibited the classic signs of Bell’s palsy, including complete paralysis of the muscles of one side of the face, inability to wrinkle the muscle of the right forehead, and inability to fully close the right eye, she also had concerning symptoms of vertigo, dysarthria, and contralateral upper extremity weakness.

A computed tomography (CT) scan of the head was ordered, which revealed a large mass lesion centered in the right petrous apex, with an associated large component extending medially into the right cerebellopontine angle (CPA) that caused a mass effect on the adjacent brainstem (Figures 1a and 1b).

Discussion

Accounts of facial paralysis and facial nerve disorders have been noted throughout history and include accounts of the condition by Hippocrates.¹ Bell’s palsy was named after surgeon Sir Charles Bell, who described a peripheral-nerve paralysis of the facial nerve in 1821. Bell’s work helped to elucidate the anatomy and functional role of the facial nerve.^1,2

Signs and Symptoms

The classic presentation of Bell’s palsy is weakness or complete paralysis of the muscles of one side of the face, with no sparing of the muscles of the forehead. The eyelid on the affected side generally does not close, which can result in ocular irritation due to ineffective lubrication.

A scoring system has been developed by House and Brackmann which grades the degree impairment based on such characteristics as facial muscle function and eye closure.^3,4 Approximately 96% of patients with a Bell’s palsy will improve to a House-Brackmann score of 2 or better within 1 year from diagnosis,⁵ and 85% of patients with Bell’s palsy will show at least some improvement within 3 weeks of onset (Table).² Although the classic description of Bell’s palsy notes the condition as idiopathic, there is an increasing body of evidence in the literature showing a link to herpes simplex virus 1.^5-7

Ramsey-Hunt Syndrome

The relationship between Bell’s palsy and Ramsey-Hunt syndrome is complex and controversial. Ramsey-Hunt syndrome is a constellation of possible complications from varicella-virus infection. Symptoms of Ramsey-Hunt syndrome include facial paralysis, tinnitus, hearing loss, vertigo, hyperacusis (increased sensitivity to certain frequencies and volume ranges of sound), and decreased ocular tearing.⁸ Due to the nature of symptoms associated with Ramsey-Hunt syndrome, it is apparent that the condition involves more than the seventh cranial nerve. In fact, studies have shown that Ramsey-Hunt syndrome can affect the fifth, sixth, eighth, and ninth cranial nerves.⁸

Ramsey-Hunt syndrome, which can present in the absence of cutaneous rash (referred to as zoster sine herpete), is estimated to occur in 8% to 20% of unilateral facial nerve palsies in adult patients.^8,9 Regardless of the etiology of Bell’s palsy, a review of the literature makes it clear that facial nerve paralysis is not synonymous with Bell’s palsy.¹⁰ In one example, Yetter et al¹⁰ describe the case of a patient who, though initially diagnosed with Bell’s palsy, ultimately was found to have a facial palsy due to a parotid gland malignancy.

Likewise, Stomeo¹¹ describes a case of a patient with facial paralysis and profound ipsilateral hearing loss who ultimately was found to have a mucoepithelial carcinoma of the parotid gland. In their report, the authors note that approximately 80% of facial nerve paralysis is due to Bell’s palsy, while 5% is due to malignancy.

In another report, Clemis¹² describes a case in which a patient who initially was diagnosed with Bell’s palsy eventually was found to have an adenoid cystic carcinoma of the parotid. Thus, the authors appropriately emphasize in their report that “all that palsies is not Bell’s.”

Differential Diagnosis

Historical factors, including timing and duration of symptom onset, help to distinguish a Bell’s palsy from other disorders that can mimic this condition. In their study, Brach VanSwewaringen¹³ highlight the fact that “not all facial paralysis is Bell’s palsy.” In their review, the authors describe clues to help distinguish conditions that mimic Bell’s palsy. For example, maximal weakness from Bell’s Palsy typically occurs within 3 to 7 days from symptom onset, and that a more gradual onset of symptoms, with slow or negligible improvement over 6 to 12 months, is more indicative of a space-occupying lesion than Bell’s palsy.¹³It is, however, important to note that although the patient in our case had a central lesion, she experienced an acute onset of symptoms.

The presence of additional symptoms may also suggest an alternative diagnosis. Brach and VanSwearingen¹³ further noted that symptoms associated with the eighth nerve, such as vertigo, tinnitus, and hearing loss may be found in patients with a CPA tumor. In patients with larger tumors, ninth and 10th nerve symptoms, including the impaired hearing noted in our patient, may be present. Some patients with ninth and 10th nerve symptoms may perceive a sense of facial numbness, but actual sensory changes in the facial nerve distribution are unlikely in Bell’s palsy. Gustatory changes, however, are consistent with Bell’s palsy.

Ear pain is consistent with Bell’s palsy and is a signal to be vigilant for the possible emergence of an ear rash, which would suggest the diagnosis of herpes zoster oticus along the trajectory of Ramsey-Hunt syndrome. Facial pain in the area of the facial nerve is inconsistent with Bell’s palsy, while hyperacusis is consistent with Bell’s palsy. Hearing loss is an eighth nerve symptom that is inconsistent with Bell’s palsy.

Similarly, there are physical examination findings that can help distinguish a true Bell’s palsy from a mimic. Changes in tear production are consistent with Bell’s palsy, but imbalance and disequilibrium are not.¹⁴

As previously noted, the patient in this case had difficulty walking and felt as if she was falling toward her right side.

One way to organize the causes of facial paralysis has been proposed by Adour et al.¹⁵ In this system, etiologies are listed as either acute paralysis or chronic, progressive paralysis. Acute paralysis (ie, the sudden onset of symptoms with maximal severity within 2 weeks), of which Bell’s palsy is the most common, can be seen in cases of polyneuritis.

A new case of Bell’s palsy has been estimated to occur in the United States every 10 minutes.⁸ Guillain-Barré syndrome and Lyme disease are also in this category, as is Ramsey-Hunt syndrome. Patients with Lyme disease may have a history of a tick bite or rash.¹⁴

Trauma can also cause acute facial nerve paralysis (eg, blunt trauma-associated facial fracture, penetrating trauma, birth trauma). Unilateral central facial weakness can have a neurological cause, such as a lesion to the contralateral cortex, subcortical white matter, or internal capsule.^2,15 Otitis media can sometimes cause facial paralysis.¹⁶ A cholesteatoma can cause acute facial paralysis.² Malignancies cause 5% of all cases of facial paralysis. Primary parotid tumors of various types are in this category. Metastatic disease from breast, lung, skin, colon, and kidney may cause facial paralysis. As our case illustrates, CPA tumors can cause facial paralysis.¹⁵ It is important to also note that a patient can have both a Bell’s palsy and a concurrent disease. There are a number of case reports in the literature that describe acute onset of facial paralysis as a presenting symptom of malignancy.¹⁷ In addition, there are cases wherein a neurological finding on imaging, such as an acoustic neuroma, was presumed to be the cause of facial paralysis, yet the patient’s symptoms resolved in a manner consistent with Bell’s palsy.¹⁸

For example, Lagman et al¹⁹ described a patient in which a CPA lipoma was presumed to be the cause of the facial paralysis, but the eventual outcome showed the lipoma to have been an incidentaloma.

Conclusion

This case demonstrates a presenting symptom of facial palsy and the presence of a CPA tumor. The presence of vertigo along with other historical and physical examination findings inconsistent with Bell’s palsy prompted the CT scan of the head. A review of the literature suggests a number of important findings in patients with facial palsy to assist the clinician in distinguishing true Bell’s palsy from other diseases that can mimic this condition. This case serves as a reminder of the need to perform a thorough and diligent workup to determine the presence or absence of other neurologic findings prior to closing on the diagnosis of Bell’s palsy.

Facial paralysis is a common medical complaint—one that has fascinated ancient and contemporary physicians alike.¹ An idiopathic facial nerve paresis involving the lower motor neuron was described in 1821 by Sir Charles Bell. This entity became known as a Bell’s palsy, the hallmark of which was weakness or complete paralysis of the muscles of one side of the face, with no sparing of the muscles of the forehead. However, not all facial paralysis is due to Bell’s palsy.

We present a case of a patient with a Bell’s palsy mimic to facilitate and guide the differential diagnosis and distinguish conditions from the classical presentation that Bell first described to the more concerning symptoms that may not be immediately obvious. Our case further underscores the importance of performing a thorough assessment to determine the presence of other neurological findings.

Case

A 61-year-old woman presented to the ED for evaluation of right facial droop and sensation of “room spinning.” The patient stated both symptoms began approximately 36 hours prior to presentation, upon awakening. She further noted that the right side of her face felt “funny” and numb.

The patient denied any headache, neck or chest pain, extremity numbness, or weakness, but stated that she felt like she was going to fall toward her right side whenever she attempted to walk. The patient’s medical history was significant for hypertension, for which she was taking losartan. Her surgical history was notable for a left oophorectomy secondary to an ovarian cyst. Regarding the social history, the patient admitted to smoking 90 packs of cigarettes per year, but denied alcohol or illicit drug use.

Upon arrival at the ED, the patient’s vital signs were: blood pressure, 164/86 mm Hg: pulse, 89 beats/min; respiratory rate, 18 breaths/min; and temperature, 98.6°F. Oxygen saturation was 98% on room air.

Physical examination revealed the patient had a right facial droop consistent with right facial palsy. She was unable to wrinkle her right forehead or fully close her right eye. There were no field cuts on confrontation. The patient’s speech was noticeable for a mild dysarthria. The motor examination revealed mild weakness of the left upper extremity and impaired right facial sensation. There were no rashes noted on the face, head, or ears. The patient had slightly impaired hearing in the right ear, which was new in onset. The remainder of the physical examination was unremarkable.

Although the patient exhibited the classic signs of Bell’s palsy, including complete paralysis of the muscles of one side of the face, inability to wrinkle the muscle of the right forehead, and inability to fully close the right eye, she also had concerning symptoms of vertigo, dysarthria, and contralateral upper extremity weakness.

A computed tomography (CT) scan of the head was ordered, which revealed a large mass lesion centered in the right petrous apex, with an associated large component extending medially into the right cerebellopontine angle (CPA) that caused a mass effect on the adjacent brainstem (Figures 1a and 1b).

Discussion

Accounts of facial paralysis and facial nerve disorders have been noted throughout history and include accounts of the condition by Hippocrates.¹ Bell’s palsy was named after surgeon Sir Charles Bell, who described a peripheral-nerve paralysis of the facial nerve in 1821. Bell’s work helped to elucidate the anatomy and functional role of the facial nerve.^1,2

Signs and Symptoms

The classic presentation of Bell’s palsy is weakness or complete paralysis of the muscles of one side of the face, with no sparing of the muscles of the forehead. The eyelid on the affected side generally does not close, which can result in ocular irritation due to ineffective lubrication.

A scoring system has been developed by House and Brackmann which grades the degree impairment based on such characteristics as facial muscle function and eye closure.^3,4 Approximately 96% of patients with a Bell’s palsy will improve to a House-Brackmann score of 2 or better within 1 year from diagnosis,⁵ and 85% of patients with Bell’s palsy will show at least some improvement within 3 weeks of onset (Table).² Although the classic description of Bell’s palsy notes the condition as idiopathic, there is an increasing body of evidence in the literature showing a link to herpes simplex virus 1.^5-7

Ramsey-Hunt Syndrome

The relationship between Bell’s palsy and Ramsey-Hunt syndrome is complex and controversial. Ramsey-Hunt syndrome is a constellation of possible complications from varicella-virus infection. Symptoms of Ramsey-Hunt syndrome include facial paralysis, tinnitus, hearing loss, vertigo, hyperacusis (increased sensitivity to certain frequencies and volume ranges of sound), and decreased ocular tearing.⁸ Due to the nature of symptoms associated with Ramsey-Hunt syndrome, it is apparent that the condition involves more than the seventh cranial nerve. In fact, studies have shown that Ramsey-Hunt syndrome can affect the fifth, sixth, eighth, and ninth cranial nerves.⁸

Ramsey-Hunt syndrome, which can present in the absence of cutaneous rash (referred to as zoster sine herpete), is estimated to occur in 8% to 20% of unilateral facial nerve palsies in adult patients.^8,9 Regardless of the etiology of Bell’s palsy, a review of the literature makes it clear that facial nerve paralysis is not synonymous with Bell’s palsy.¹⁰ In one example, Yetter et al¹⁰ describe the case of a patient who, though initially diagnosed with Bell’s palsy, ultimately was found to have a facial palsy due to a parotid gland malignancy.

Likewise, Stomeo¹¹ describes a case of a patient with facial paralysis and profound ipsilateral hearing loss who ultimately was found to have a mucoepithelial carcinoma of the parotid gland. In their report, the authors note that approximately 80% of facial nerve paralysis is due to Bell’s palsy, while 5% is due to malignancy.

In another report, Clemis¹² describes a case in which a patient who initially was diagnosed with Bell’s palsy eventually was found to have an adenoid cystic carcinoma of the parotid. Thus, the authors appropriately emphasize in their report that “all that palsies is not Bell’s.”

Differential Diagnosis

Historical factors, including timing and duration of symptom onset, help to distinguish a Bell’s palsy from other disorders that can mimic this condition. In their study, Brach VanSwewaringen¹³ highlight the fact that “not all facial paralysis is Bell’s palsy.” In their review, the authors describe clues to help distinguish conditions that mimic Bell’s palsy. For example, maximal weakness from Bell’s Palsy typically occurs within 3 to 7 days from symptom onset, and that a more gradual onset of symptoms, with slow or negligible improvement over 6 to 12 months, is more indicative of a space-occupying lesion than Bell’s palsy.¹³It is, however, important to note that although the patient in our case had a central lesion, she experienced an acute onset of symptoms.

The presence of additional symptoms may also suggest an alternative diagnosis. Brach and VanSwearingen¹³ further noted that symptoms associated with the eighth nerve, such as vertigo, tinnitus, and hearing loss may be found in patients with a CPA tumor. In patients with larger tumors, ninth and 10th nerve symptoms, including the impaired hearing noted in our patient, may be present. Some patients with ninth and 10th nerve symptoms may perceive a sense of facial numbness, but actual sensory changes in the facial nerve distribution are unlikely in Bell’s palsy. Gustatory changes, however, are consistent with Bell’s palsy.

Ear pain is consistent with Bell’s palsy and is a signal to be vigilant for the possible emergence of an ear rash, which would suggest the diagnosis of herpes zoster oticus along the trajectory of Ramsey-Hunt syndrome. Facial pain in the area of the facial nerve is inconsistent with Bell’s palsy, while hyperacusis is consistent with Bell’s palsy. Hearing loss is an eighth nerve symptom that is inconsistent with Bell’s palsy.

Similarly, there are physical examination findings that can help distinguish a true Bell’s palsy from a mimic. Changes in tear production are consistent with Bell’s palsy, but imbalance and disequilibrium are not.¹⁴

As previously noted, the patient in this case had difficulty walking and felt as if she was falling toward her right side.

One way to organize the causes of facial paralysis has been proposed by Adour et al.¹⁵ In this system, etiologies are listed as either acute paralysis or chronic, progressive paralysis. Acute paralysis (ie, the sudden onset of symptoms with maximal severity within 2 weeks), of which Bell’s palsy is the most common, can be seen in cases of polyneuritis.

A new case of Bell’s palsy has been estimated to occur in the United States every 10 minutes.⁸ Guillain-Barré syndrome and Lyme disease are also in this category, as is Ramsey-Hunt syndrome. Patients with Lyme disease may have a history of a tick bite or rash.¹⁴

Trauma can also cause acute facial nerve paralysis (eg, blunt trauma-associated facial fracture, penetrating trauma, birth trauma). Unilateral central facial weakness can have a neurological cause, such as a lesion to the contralateral cortex, subcortical white matter, or internal capsule.^2,15 Otitis media can sometimes cause facial paralysis.¹⁶ A cholesteatoma can cause acute facial paralysis.² Malignancies cause 5% of all cases of facial paralysis. Primary parotid tumors of various types are in this category. Metastatic disease from breast, lung, skin, colon, and kidney may cause facial paralysis. As our case illustrates, CPA tumors can cause facial paralysis.¹⁵ It is important to also note that a patient can have both a Bell’s palsy and a concurrent disease. There are a number of case reports in the literature that describe acute onset of facial paralysis as a presenting symptom of malignancy.¹⁷ In addition, there are cases wherein a neurological finding on imaging, such as an acoustic neuroma, was presumed to be the cause of facial paralysis, yet the patient’s symptoms resolved in a manner consistent with Bell’s palsy.¹⁸

For example, Lagman et al¹⁹ described a patient in which a CPA lipoma was presumed to be the cause of the facial paralysis, but the eventual outcome showed the lipoma to have been an incidentaloma.

Conclusion

This case demonstrates a presenting symptom of facial palsy and the presence of a CPA tumor. The presence of vertigo along with other historical and physical examination findings inconsistent with Bell’s palsy prompted the CT scan of the head. A review of the literature suggests a number of important findings in patients with facial palsy to assist the clinician in distinguishing true Bell’s palsy from other diseases that can mimic this condition. This case serves as a reminder of the need to perform a thorough and diligent workup to determine the presence or absence of other neurologic findings prior to closing on the diagnosis of Bell’s palsy.

ABSTRACT

Soft tissue defects associated with exposed tendon pose difficult reconstructive problems because of tendon adhesions, poor range of motion, poor cosmetic appearance, and donor site morbidity. Dermal regeneration template is a skin substitute widely used in reconstructive surgery, including the occasional coverage of tendons. However, postoperative functionality of the tendons has not been well documented. We report a case of using dermal regeneration template for soft tissue reconstruction overlying tendons with loss of paratenon in a patient with Dupuytren’s contracture. Dermal regeneration template may offer an alternative option for immediate tendon coverage in the hand.

Soft tissue defects overlying exposed tendon with loss of paratenon often precipitate poor clinical outcomes because of the dichotomous demands of both closing the overlying soft-tissue defect and providing a gliding surface for the underlying tendons.¹ Although avoidance of adhesions and restoration of function are the primary goals of the procedure, satisfactory appearance is also desirable. Likewise, any form of coverage should ideally provide good vasculature required for complete healing and an early form of closure following débridement.² Simple skin grafts do not adequately meet these demands because they result in a high rate of tendon adhesions,³ and also are limited in patients with limited donor skin availability or questionable underlying wound bed viability, such as in scleroderma.

In order to reduce the frequency of tendon adhesions by creating a gliding surface, the use of interpositional materials, both artificial and biologic, has been employed with varying degrees of success, including cellophane, chitosan membrane, fibrin sealant, autogenous fascial flaps, and autogenous venous grafts.^4-7 Many of the autogenous flaps and grafts have been employed with good success.⁸ However, complications and donor site morbidity encourage alternative procedures, including the use of artificial substances.^2,8-10

We present our clinical experience with a patient who underwent successful placement of Integra (Integra LifeSciences) Dermal Regeneration Template (DRT) directly over exposed tendons with a subsequent full-thickness skin graft several weeks later. The procedures were performed per the manufacturer’s specifications, resulting in 2 stages of reconstruction. In our experience, DRT can offer immediate coverage unrestricted by wound size, and provides shorter operative time and decreased donor site and surgical morbidity compared with flap coverage, while demonstrating good cosmetic results. The patient provided written informed consent for print and electronic publication of this case report.

CASE

A 74-year-old right-handed man with Dupuytren’s contracture was evaluated for recurrent symptomatic contracture causing difficulty with daily activities. He reported palpable cords and contractures in the ring and small fingers of the right hand. He had 2 prior open surgical procedures, including palmar and digital fasciectomy of both hands. On the right hand, the ring and small fingers demonstrated 90° proximal interphalangeal (PIP) and 60° metacarpophalangeal (MCP) flexion contractures. Palpable central cords were present on the flexor surfaces of both the ring and small fingers. A well-healed surgical incision, performed 22 years earlier, was present over the palmar aspect of the ring finger.

Continue to: With consideration given...

With consideration given to the patient’s recurrent contracture after a prior surgical procedure, we discussed surgical excision of the diseased cords in order to eliminate the possibility of a second recurrence and maximize the gain of motion. Following discussion with the patient, we performed palmar and digital fasciectomy of the ring and small finger contractures. Postoperatively, the patient was followed closely for wound complications and vascular status. On his return to our clinic 11 days later, the patient was noted to have dehiscence of the digital wounds in the ring and small fingers (Figure 1). 

STAGE 1

During the first stage, completed 14 days following the index procedure, débridement of the wounds was performed, followed by provisional DRT coverage of the tendons, secured with 5-0 nylon sutures (Figure 2). 

STAGE 2

At approximately 2 weeks after application of the DRT, a full-thickness skin graft was applied. The thickness of the graft was chosen to allow for durable coverage of the palmar skin defects. Upon successful completion of the second stage, the patient was followed and evaluated for complete wound healing. On performing an examination 14 days after surgery, the ring and small fingers demonstrated only partially healed skin graft but significantly improved range of motion (ROM), with 40° to 90° arc of motion in the PIP joint and 25° to 90° arc of motion in the MCP joint (Figure 4). Owing to their limited size, the wounds were treated with dressing changes until successful healing (Figure 5).

Hand therapy was instituted to achieve maximum mobility for covered soft tissue and tendons and to maximize tendon gliding. At 1-year follow-up, the skin was fully healed and the patient’s active PIP motion was 30° to 90°, active MCP motion was 0° to 90°, and grip strength was 90 lb on both sides. The tendons glided under a well-vascularized tissue at the DRT placement site, and no secondary tenolysis procedure was deemed necessary.

DISCUSSION

Soft tissue defects with exposed tendons may offer a number of challenges for coverage. The primary concern is the creation of a gliding surface and the restoration of a functional tendon without adhesions.² However, surgeons must use their own clinical judgment when choosing the method of coverage so as to minimize the effects of donor site morbidity and maximize the overall functional and cosmetic outcomes. All options must be considered while selecting a material or flap that is likely to survive in the relatively avascular tendon plane.^2,8,11 When considering the reconstructive ladder, skin grafts may not represent a viable option in the presence of a nonvascularized wound bed, such as exposed tendon or bone, where paratenon or periosteum have been damaged. That leaves the surgeon with local flaps, regional flaps, free flaps, and skin substitutes.

Continue to : Before planning closure...

As Levin¹² noted in 1993, decisions regarding repair of any soft tissue defect may follow a well-delineated ladder beginning with the primary choice of split-thickness skin grafts and ending with free flaps. When treating tissue defects in the hand complex, flaps are an excellent option as they replace like with like, allow minimal scarring and early rehabilitation. ^13,14 Nevertheless, a few general disadvantages are inherent in flap procedure: increase in operating time, risk of flap loss, and in case of free flaps, knowledge, experience, and microsurgical ability.² In reference to complications, the rate of flap loss found by Khouri and colleagues¹⁵ was 4.1% with a 12.1% chance of incurring some measured complication, including wound dehiscence, arterial insufficiency, and flap necrosis.

Likewise, some of the conventional local and free flaps, including cutaneous and muscular flaps, prove ineffective in preventing tendon adhesions, create unsightly postoperative contours, or increase the area of trauma on the wounded hand, encouraging the use of free fascial flaps.¹¹ Among the wide array of potential free fascial flaps, the temporoparietal, scapular, lateral arm, radial forearm, and free serratus fascial flaps are some of the most popular for hand defects.^8,9 However, these procedures require an additional surgical site, meticulous dissection, microsurgical technique at times, and increased operating cost and time.^2,8-10 Furthermore, free fascial flaps have demonstrated occasional partial flap loss and a decreased survival of the overlying skin graft, leading some to advocate delayed skin graft placement.^10,16,17

On the basis of these complications, Bray and colleagues¹¹ noted that the utility of free flaps may be limited in smaller clinical settings. The primary disadvantage of using DRTs is the necessity for a second operative procedure to harvest and place the skin graft. Traditionally, this is performed 2 to 3 weeks after the initial DRT application. Nevertheless, a 1-stage procedure can be performed in an outpatient setup, minimizing the burden to the patient and the medical costs, followed by secondary intention healing.

In response to critics of the 2-stage technique, Sanger and colleagues¹⁸ described single-stage use of DRT with split-thickness skin grafts with placement of an overlying wound vacuum-assisted closure to help speed incorporation of the DRT and improve survival of the immediately grafted skin. Another viable alternative is the McCash open-palm technique.¹⁹ In the open-palm technique, a Brunner zigzag incision is made in the affected digit. A transverse incision is made in the palm. A partial fasciectomy is performed in the palm and digit. After release, the digital incision is closed, and the palmar incision is left open. Although this well-studied and well-reported technique is known to reduce the risk of flap necrosis due to tension and hematoma,²⁰ its main application is in the palm, as the name implies. Because in our patient the defect was palmar-digital with exposed “white structures,” we elected to use DRT.

Continue to: Although there is still...

ABSTRACT

Soft tissue defects associated with exposed tendon pose difficult reconstructive problems because of tendon adhesions, poor range of motion, poor cosmetic appearance, and donor site morbidity. Dermal regeneration template is a skin substitute widely used in reconstructive surgery, including the occasional coverage of tendons. However, postoperative functionality of the tendons has not been well documented. We report a case of using dermal regeneration template for soft tissue reconstruction overlying tendons with loss of paratenon in a patient with Dupuytren’s contracture. Dermal regeneration template may offer an alternative option for immediate tendon coverage in the hand.

Soft tissue defects overlying exposed tendon with loss of paratenon often precipitate poor clinical outcomes because of the dichotomous demands of both closing the overlying soft-tissue defect and providing a gliding surface for the underlying tendons.¹ Although avoidance of adhesions and restoration of function are the primary goals of the procedure, satisfactory appearance is also desirable. Likewise, any form of coverage should ideally provide good vasculature required for complete healing and an early form of closure following débridement.² Simple skin grafts do not adequately meet these demands because they result in a high rate of tendon adhesions,³ and also are limited in patients with limited donor skin availability or questionable underlying wound bed viability, such as in scleroderma.

In order to reduce the frequency of tendon adhesions by creating a gliding surface, the use of interpositional materials, both artificial and biologic, has been employed with varying degrees of success, including cellophane, chitosan membrane, fibrin sealant, autogenous fascial flaps, and autogenous venous grafts.^4-7 Many of the autogenous flaps and grafts have been employed with good success.⁸ However, complications and donor site morbidity encourage alternative procedures, including the use of artificial substances.^2,8-10

We present our clinical experience with a patient who underwent successful placement of Integra (Integra LifeSciences) Dermal Regeneration Template (DRT) directly over exposed tendons with a subsequent full-thickness skin graft several weeks later. The procedures were performed per the manufacturer’s specifications, resulting in 2 stages of reconstruction. In our experience, DRT can offer immediate coverage unrestricted by wound size, and provides shorter operative time and decreased donor site and surgical morbidity compared with flap coverage, while demonstrating good cosmetic results. The patient provided written informed consent for print and electronic publication of this case report.

CASE

A 74-year-old right-handed man with Dupuytren’s contracture was evaluated for recurrent symptomatic contracture causing difficulty with daily activities. He reported palpable cords and contractures in the ring and small fingers of the right hand. He had 2 prior open surgical procedures, including palmar and digital fasciectomy of both hands. On the right hand, the ring and small fingers demonstrated 90° proximal interphalangeal (PIP) and 60° metacarpophalangeal (MCP) flexion contractures. Palpable central cords were present on the flexor surfaces of both the ring and small fingers. A well-healed surgical incision, performed 22 years earlier, was present over the palmar aspect of the ring finger.

Continue to: With consideration given...

With consideration given to the patient’s recurrent contracture after a prior surgical procedure, we discussed surgical excision of the diseased cords in order to eliminate the possibility of a second recurrence and maximize the gain of motion. Following discussion with the patient, we performed palmar and digital fasciectomy of the ring and small finger contractures. Postoperatively, the patient was followed closely for wound complications and vascular status. On his return to our clinic 11 days later, the patient was noted to have dehiscence of the digital wounds in the ring and small fingers (Figure 1). 

STAGE 1

During the first stage, completed 14 days following the index procedure, débridement of the wounds was performed, followed by provisional DRT coverage of the tendons, secured with 5-0 nylon sutures (Figure 2). 

STAGE 2

At approximately 2 weeks after application of the DRT, a full-thickness skin graft was applied. The thickness of the graft was chosen to allow for durable coverage of the palmar skin defects. Upon successful completion of the second stage, the patient was followed and evaluated for complete wound healing. On performing an examination 14 days after surgery, the ring and small fingers demonstrated only partially healed skin graft but significantly improved range of motion (ROM), with 40° to 90° arc of motion in the PIP joint and 25° to 90° arc of motion in the MCP joint (Figure 4). Owing to their limited size, the wounds were treated with dressing changes until successful healing (Figure 5).

Hand therapy was instituted to achieve maximum mobility for covered soft tissue and tendons and to maximize tendon gliding. At 1-year follow-up, the skin was fully healed and the patient’s active PIP motion was 30° to 90°, active MCP motion was 0° to 90°, and grip strength was 90 lb on both sides. The tendons glided under a well-vascularized tissue at the DRT placement site, and no secondary tenolysis procedure was deemed necessary.

DISCUSSION

Soft tissue defects with exposed tendons may offer a number of challenges for coverage. The primary concern is the creation of a gliding surface and the restoration of a functional tendon without adhesions.² However, surgeons must use their own clinical judgment when choosing the method of coverage so as to minimize the effects of donor site morbidity and maximize the overall functional and cosmetic outcomes. All options must be considered while selecting a material or flap that is likely to survive in the relatively avascular tendon plane.^2,8,11 When considering the reconstructive ladder, skin grafts may not represent a viable option in the presence of a nonvascularized wound bed, such as exposed tendon or bone, where paratenon or periosteum have been damaged. That leaves the surgeon with local flaps, regional flaps, free flaps, and skin substitutes.

Continue to : Before planning closure...

As Levin¹² noted in 1993, decisions regarding repair of any soft tissue defect may follow a well-delineated ladder beginning with the primary choice of split-thickness skin grafts and ending with free flaps. When treating tissue defects in the hand complex, flaps are an excellent option as they replace like with like, allow minimal scarring and early rehabilitation. ^13,14 Nevertheless, a few general disadvantages are inherent in flap procedure: increase in operating time, risk of flap loss, and in case of free flaps, knowledge, experience, and microsurgical ability.² In reference to complications, the rate of flap loss found by Khouri and colleagues¹⁵ was 4.1% with a 12.1% chance of incurring some measured complication, including wound dehiscence, arterial insufficiency, and flap necrosis.

Likewise, some of the conventional local and free flaps, including cutaneous and muscular flaps, prove ineffective in preventing tendon adhesions, create unsightly postoperative contours, or increase the area of trauma on the wounded hand, encouraging the use of free fascial flaps.¹¹ Among the wide array of potential free fascial flaps, the temporoparietal, scapular, lateral arm, radial forearm, and free serratus fascial flaps are some of the most popular for hand defects.^8,9 However, these procedures require an additional surgical site, meticulous dissection, microsurgical technique at times, and increased operating cost and time.^2,8-10 Furthermore, free fascial flaps have demonstrated occasional partial flap loss and a decreased survival of the overlying skin graft, leading some to advocate delayed skin graft placement.^10,16,17

On the basis of these complications, Bray and colleagues¹¹ noted that the utility of free flaps may be limited in smaller clinical settings. The primary disadvantage of using DRTs is the necessity for a second operative procedure to harvest and place the skin graft. Traditionally, this is performed 2 to 3 weeks after the initial DRT application. Nevertheless, a 1-stage procedure can be performed in an outpatient setup, minimizing the burden to the patient and the medical costs, followed by secondary intention healing.

In response to critics of the 2-stage technique, Sanger and colleagues¹⁸ described single-stage use of DRT with split-thickness skin grafts with placement of an overlying wound vacuum-assisted closure to help speed incorporation of the DRT and improve survival of the immediately grafted skin. Another viable alternative is the McCash open-palm technique.¹⁹ In the open-palm technique, a Brunner zigzag incision is made in the affected digit. A transverse incision is made in the palm. A partial fasciectomy is performed in the palm and digit. After release, the digital incision is closed, and the palmar incision is left open. Although this well-studied and well-reported technique is known to reduce the risk of flap necrosis due to tension and hematoma,²⁰ its main application is in the palm, as the name implies. Because in our patient the defect was palmar-digital with exposed “white structures,” we elected to use DRT.

Continue to: Although there is still...

ABSTRACT

Soft tissue defects associated with exposed tendon pose difficult reconstructive problems because of tendon adhesions, poor range of motion, poor cosmetic appearance, and donor site morbidity. Dermal regeneration template is a skin substitute widely used in reconstructive surgery, including the occasional coverage of tendons. However, postoperative functionality of the tendons has not been well documented. We report a case of using dermal regeneration template for soft tissue reconstruction overlying tendons with loss of paratenon in a patient with Dupuytren’s contracture. Dermal regeneration template may offer an alternative option for immediate tendon coverage in the hand.

Soft tissue defects overlying exposed tendon with loss of paratenon often precipitate poor clinical outcomes because of the dichotomous demands of both closing the overlying soft-tissue defect and providing a gliding surface for the underlying tendons.¹ Although avoidance of adhesions and restoration of function are the primary goals of the procedure, satisfactory appearance is also desirable. Likewise, any form of coverage should ideally provide good vasculature required for complete healing and an early form of closure following débridement.² Simple skin grafts do not adequately meet these demands because they result in a high rate of tendon adhesions,³ and also are limited in patients with limited donor skin availability or questionable underlying wound bed viability, such as in scleroderma.

In order to reduce the frequency of tendon adhesions by creating a gliding surface, the use of interpositional materials, both artificial and biologic, has been employed with varying degrees of success, including cellophane, chitosan membrane, fibrin sealant, autogenous fascial flaps, and autogenous venous grafts.^4-7 Many of the autogenous flaps and grafts have been employed with good success.⁸ However, complications and donor site morbidity encourage alternative procedures, including the use of artificial substances.^2,8-10

We present our clinical experience with a patient who underwent successful placement of Integra (Integra LifeSciences) Dermal Regeneration Template (DRT) directly over exposed tendons with a subsequent full-thickness skin graft several weeks later. The procedures were performed per the manufacturer’s specifications, resulting in 2 stages of reconstruction. In our experience, DRT can offer immediate coverage unrestricted by wound size, and provides shorter operative time and decreased donor site and surgical morbidity compared with flap coverage, while demonstrating good cosmetic results. The patient provided written informed consent for print and electronic publication of this case report.

CASE

A 74-year-old right-handed man with Dupuytren’s contracture was evaluated for recurrent symptomatic contracture causing difficulty with daily activities. He reported palpable cords and contractures in the ring and small fingers of the right hand. He had 2 prior open surgical procedures, including palmar and digital fasciectomy of both hands. On the right hand, the ring and small fingers demonstrated 90° proximal interphalangeal (PIP) and 60° metacarpophalangeal (MCP) flexion contractures. Palpable central cords were present on the flexor surfaces of both the ring and small fingers. A well-healed surgical incision, performed 22 years earlier, was present over the palmar aspect of the ring finger.

Continue to: With consideration given...

With consideration given to the patient’s recurrent contracture after a prior surgical procedure, we discussed surgical excision of the diseased cords in order to eliminate the possibility of a second recurrence and maximize the gain of motion. Following discussion with the patient, we performed palmar and digital fasciectomy of the ring and small finger contractures. Postoperatively, the patient was followed closely for wound complications and vascular status. On his return to our clinic 11 days later, the patient was noted to have dehiscence of the digital wounds in the ring and small fingers (Figure 1). 

STAGE 1

During the first stage, completed 14 days following the index procedure, débridement of the wounds was performed, followed by provisional DRT coverage of the tendons, secured with 5-0 nylon sutures (Figure 2). 

STAGE 2

At approximately 2 weeks after application of the DRT, a full-thickness skin graft was applied. The thickness of the graft was chosen to allow for durable coverage of the palmar skin defects. Upon successful completion of the second stage, the patient was followed and evaluated for complete wound healing. On performing an examination 14 days after surgery, the ring and small fingers demonstrated only partially healed skin graft but significantly improved range of motion (ROM), with 40° to 90° arc of motion in the PIP joint and 25° to 90° arc of motion in the MCP joint (Figure 4). Owing to their limited size, the wounds were treated with dressing changes until successful healing (Figure 5).

Hand therapy was instituted to achieve maximum mobility for covered soft tissue and tendons and to maximize tendon gliding. At 1-year follow-up, the skin was fully healed and the patient’s active PIP motion was 30° to 90°, active MCP motion was 0° to 90°, and grip strength was 90 lb on both sides. The tendons glided under a well-vascularized tissue at the DRT placement site, and no secondary tenolysis procedure was deemed necessary.

DISCUSSION

Soft tissue defects with exposed tendons may offer a number of challenges for coverage. The primary concern is the creation of a gliding surface and the restoration of a functional tendon without adhesions.² However, surgeons must use their own clinical judgment when choosing the method of coverage so as to minimize the effects of donor site morbidity and maximize the overall functional and cosmetic outcomes. All options must be considered while selecting a material or flap that is likely to survive in the relatively avascular tendon plane.^2,8,11 When considering the reconstructive ladder, skin grafts may not represent a viable option in the presence of a nonvascularized wound bed, such as exposed tendon or bone, where paratenon or periosteum have been damaged. That leaves the surgeon with local flaps, regional flaps, free flaps, and skin substitutes.

Continue to : Before planning closure...

As Levin¹² noted in 1993, decisions regarding repair of any soft tissue defect may follow a well-delineated ladder beginning with the primary choice of split-thickness skin grafts and ending with free flaps. When treating tissue defects in the hand complex, flaps are an excellent option as they replace like with like, allow minimal scarring and early rehabilitation. ^13,14 Nevertheless, a few general disadvantages are inherent in flap procedure: increase in operating time, risk of flap loss, and in case of free flaps, knowledge, experience, and microsurgical ability.² In reference to complications, the rate of flap loss found by Khouri and colleagues¹⁵ was 4.1% with a 12.1% chance of incurring some measured complication, including wound dehiscence, arterial insufficiency, and flap necrosis.

Likewise, some of the conventional local and free flaps, including cutaneous and muscular flaps, prove ineffective in preventing tendon adhesions, create unsightly postoperative contours, or increase the area of trauma on the wounded hand, encouraging the use of free fascial flaps.¹¹ Among the wide array of potential free fascial flaps, the temporoparietal, scapular, lateral arm, radial forearm, and free serratus fascial flaps are some of the most popular for hand defects.^8,9 However, these procedures require an additional surgical site, meticulous dissection, microsurgical technique at times, and increased operating cost and time.^2,8-10 Furthermore, free fascial flaps have demonstrated occasional partial flap loss and a decreased survival of the overlying skin graft, leading some to advocate delayed skin graft placement.^10,16,17

On the basis of these complications, Bray and colleagues¹¹ noted that the utility of free flaps may be limited in smaller clinical settings. The primary disadvantage of using DRTs is the necessity for a second operative procedure to harvest and place the skin graft. Traditionally, this is performed 2 to 3 weeks after the initial DRT application. Nevertheless, a 1-stage procedure can be performed in an outpatient setup, minimizing the burden to the patient and the medical costs, followed by secondary intention healing.

In response to critics of the 2-stage technique, Sanger and colleagues¹⁸ described single-stage use of DRT with split-thickness skin grafts with placement of an overlying wound vacuum-assisted closure to help speed incorporation of the DRT and improve survival of the immediately grafted skin. Another viable alternative is the McCash open-palm technique.¹⁹ In the open-palm technique, a Brunner zigzag incision is made in the affected digit. A transverse incision is made in the palm. A partial fasciectomy is performed in the palm and digit. After release, the digital incision is closed, and the palmar incision is left open. Although this well-studied and well-reported technique is known to reduce the risk of flap necrosis due to tension and hematoma,²⁰ its main application is in the palm, as the name implies. Because in our patient the defect was palmar-digital with exposed “white structures,” we elected to use DRT.

Continue to: Although there is still...

ABSTRACT

A central distal femoral physeal bone bridge in a boy aged 5 years and 7 months was resected with a fluoroscopically guided core reamer placed through a lateral parapatellar approach. At 3-year follow-up, the boy’s leg-length discrepancy was 3.0 cm (3.9 cm preoperatively), and the physeal bone bridge did not recur. The patient had full function and no pain or other patellofemoral complaints. This technique provided direct access to the physeal bone bridge, and complete resection was performed without injury to the adjacent physeal cartilage in the medial and lateral columns of the distal femur, which is expected to grow normally in the absence of the bridge.

A physeal bone bridge is an osseous connection that forms across a physis. It may cause partial premature physeal arrest. Angular deformity and limb-length discrepancy are the main complications caused by physeal bone bridges.^1-4 The indications for the treatment of physeal bridges are well documented.^1-5 Trauma and infection are common causes of distal femoral physeal bone bridges. Arkader and colleagues⁶ showed that among different types of physeal bridges, the Salter-Harris type is significantly associated with complications, among which growth arrest is the most common and occurs in 27.4% of all patients.

The treatment of distal femoral physeal bone bridges is technically difficult and provides variable results. Poor results are reported in 13% to 40% of patients.^7-10 Procedure failure has been attributed to incomplete resection with the persistent tethering and dislodgement of the graft.¹¹ Methods with improved efficacy for the removal of central physeal bridges will help prevent reformation after treatment. We have used a novel technique that allows the direct resection of a central physeal bone bridge in the distal femur through the use of a fluoroscopically guided core reamer. This technique enables the complete removal of the bone bridge and the direct visual assessment of the remaining physis. The patient’s parents provided written informed consent for print and electronic publication of this case report.

CASE

A 3-year-old boy with a history of hemifacial microsomia presented for the evaluation of genu valgum and leg-length discrepancy. His intermalleolar distance at that time was 8 cm. A standing radiograph of his lower extremities demonstrated changes consistent with physiologic genu valgum. He had no history of knee trauma, infection, or pain.

At the age of 5 years and 7 months, the patient returned for a repeat evaluation and was noted to exhibit the progressive valgus deformity of the right leg and a leg-length discrepancy of 3.9 cm (Figure 1). 

Continue to: With the patient supine on the operating...

OPERATIVE TECHNIQUE

With the patient supine on the operating table and after the administration of general anesthesia, 3-dimensional (3-D) fluoroscopy was used to localize the bone bridge, which confirmed the fluoroscopic location that was previously visualized through preoperative 3-D imaging. The leg was elevated, and a tourniquet was applied and inflated. A lateral parapatellar approach was used to isolate the distal femoral physis anteriorly because the bone bridge was centered just lateral to the central portion of the distal femoral physis. A Kirschner wire was placed in the center of the bridge under anteroposterior and lateral fluoroscopic imaging (Figures 3A-3E). 

OUTCOME

The patient healed uneventfully, and early range-of-motion exercises were started 6 weeks postoperatively. At 6-month follow-up, his leg-length discrepancy was 2.7 cm, and the bone bridge did not recur. At 3-year follow-up, his leg-length discrepancy was 3.0 cm, and the bone bridge did not recur. Over the 3 years postoperatively, the patient exhibited 9.8 cm of growth on his operative side and 9.5 cm on his nonoperative side (Figure 5). 

DISCUSSION

Given the considerable growth potential of the distal femoral physis,^1,14-16 an injury to the distal femoral physis and the formation of a physeal bone bridge can have a profound effect on a young patient in terms of leg-length discrepancy and angular deformity. Fracture from trauma or infection is a common cause of physeal bone bridges.^6,17-19 The etiology of our patient’s distal femoral physeal bone bridge is idiopathic, which is considerably less common than other etiologies, and the incidence of idiopathic physeal bone bridge formation is not well established in the literature. Hresko and Kasser²¹ identified atraumatic physeal bone bridge formations in 7 patients. Among the 13 patients with physeal bone bridges described by Broughton and colleagues,²⁰ the cause of bridge formation is unknown in 1.

Physeal bone bridges that form centrally are particularly challenging because they are difficult to visualize through a peripheral approach. A number of methods for resecting central physeal bone bridges have been described. These methods have varying degrees of success. In 1981, Langenskiöld⁷ first described the creation of a metaphyseal mirror and the use of a dental mirror for visualization. This technique, however, yielded unfavorable results in 16% of patients. Williamson and Staheli⁹ reported poor results in 23% of patients. Loraas and Schmale⁴ described the use of an endoscope, termed an osteoscope, for visualization, citing advantages of superior illumination and potential for image magnification and capture. Marsh and Polzhofer⁸ also showed this technique to have low morbidity but poor results in 13% of patients, whereas Moreta and colleagues¹⁰ reported poor results in 2 out of 5 patients. The rate of poor results of these methods may be related to the technical difficulty of using dental mirrors and arthroscopes and can be improved by highly efficient direct methods with improved visualization, such as the method described in this article.

Continue to: Proper imaging is necessary for...

Proper imaging is necessary for the accurate quantification of bone bridges to determine resectability and to identify the best surgical approach to resection. MRI with software for the generation of 3-D physeal maps is a reproducible method with good interobserver reliability.^22,23 Intraoperative computer-assisted imaging also is beneficial for determining the extent and location of the resection to ensure complete bone bridge removal.²⁴

To our knowledge, a direct approach through parapatellar arthrotomy for the resection of a centrally located distal femoral physeal bone bridge has not been previously described. This novel technique provided direct access to the physeal bone bridge and was performed without injuring the adjacent physeal cartilage in the medial and lateral columns of the distal femur, which may grow normally in the absence of the bridge. Instead of using a lateral or medial approach with a metaphyseal window,⁴ we directly approached this central bar through a parapatellar approach and were able to completely resect it under direct visualization. This obviated the need for an arthroscope or dental mirror. To remove the entire physeal bone bridge, we needed to resect completely from the anterior cortex to the posterior cortex. Although this technique potentially increased the risk of iatrogenic fracture, we believed that this risk would not differ greatly from that of disrupting the medial or lateral metaphysis and would be more stable with either axial and torsion load. At 3-year follow-up, the patient exhibited restored normal growth in his operative limb relative to that in his nonoperative limb, had not developed angular deformity, and had maintained his previously developed limb-length discrepancy that could be corrected with the epiphysiodesis of his opposite limb at a later date.

The limitations to this technique include the fact that it may be most effective with small-to moderate-sized central physeal bone bridges, although resection has shown good results with up to 70% physeal involvement.⁸ In this patient, the bone bridge was moderately sized (30% of the physis), centrally located, and clearly visible on fluoroscopy. These characteristics increased the technical safety and ease of the procedure. The resection of large, peripheral bridges may destabilize the distal femur. The destabilization of the distal femur, in turn, can lead to fracture. Patellofemoral mechanics may also be affected during the treatment of distal femoral physeal bone bridges. This patient has not experienced any patellofemoral dysfunction or symptoms. Given the patient’s age and significant amount of remaining growth, he will need close monitoring until he reaches skeletal maturity.

This paper will be judged for the Resident Writer’s Award.

ABSTRACT

A central distal femoral physeal bone bridge in a boy aged 5 years and 7 months was resected with a fluoroscopically guided core reamer placed through a lateral parapatellar approach. At 3-year follow-up, the boy’s leg-length discrepancy was 3.0 cm (3.9 cm preoperatively), and the physeal bone bridge did not recur. The patient had full function and no pain or other patellofemoral complaints. This technique provided direct access to the physeal bone bridge, and complete resection was performed without injury to the adjacent physeal cartilage in the medial and lateral columns of the distal femur, which is expected to grow normally in the absence of the bridge.

A physeal bone bridge is an osseous connection that forms across a physis. It may cause partial premature physeal arrest. Angular deformity and limb-length discrepancy are the main complications caused by physeal bone bridges.^1-4 The indications for the treatment of physeal bridges are well documented.^1-5 Trauma and infection are common causes of distal femoral physeal bone bridges. Arkader and colleagues⁶ showed that among different types of physeal bridges, the Salter-Harris type is significantly associated with complications, among which growth arrest is the most common and occurs in 27.4% of all patients.

The treatment of distal femoral physeal bone bridges is technically difficult and provides variable results. Poor results are reported in 13% to 40% of patients.^7-10 Procedure failure has been attributed to incomplete resection with the persistent tethering and dislodgement of the graft.¹¹ Methods with improved efficacy for the removal of central physeal bridges will help prevent reformation after treatment. We have used a novel technique that allows the direct resection of a central physeal bone bridge in the distal femur through the use of a fluoroscopically guided core reamer. This technique enables the complete removal of the bone bridge and the direct visual assessment of the remaining physis. The patient’s parents provided written informed consent for print and electronic publication of this case report.

CASE

A 3-year-old boy with a history of hemifacial microsomia presented for the evaluation of genu valgum and leg-length discrepancy. His intermalleolar distance at that time was 8 cm. A standing radiograph of his lower extremities demonstrated changes consistent with physiologic genu valgum. He had no history of knee trauma, infection, or pain.

At the age of 5 years and 7 months, the patient returned for a repeat evaluation and was noted to exhibit the progressive valgus deformity of the right leg and a leg-length discrepancy of 3.9 cm (Figure 1). 

Continue to: With the patient supine on the operating...

OPERATIVE TECHNIQUE

With the patient supine on the operating table and after the administration of general anesthesia, 3-dimensional (3-D) fluoroscopy was used to localize the bone bridge, which confirmed the fluoroscopic location that was previously visualized through preoperative 3-D imaging. The leg was elevated, and a tourniquet was applied and inflated. A lateral parapatellar approach was used to isolate the distal femoral physis anteriorly because the bone bridge was centered just lateral to the central portion of the distal femoral physis. A Kirschner wire was placed in the center of the bridge under anteroposterior and lateral fluoroscopic imaging (Figures 3A-3E). 

OUTCOME

The patient healed uneventfully, and early range-of-motion exercises were started 6 weeks postoperatively. At 6-month follow-up, his leg-length discrepancy was 2.7 cm, and the bone bridge did not recur. At 3-year follow-up, his leg-length discrepancy was 3.0 cm, and the bone bridge did not recur. Over the 3 years postoperatively, the patient exhibited 9.8 cm of growth on his operative side and 9.5 cm on his nonoperative side (Figure 5). 

DISCUSSION

Given the considerable growth potential of the distal femoral physis,^1,14-16 an injury to the distal femoral physis and the formation of a physeal bone bridge can have a profound effect on a young patient in terms of leg-length discrepancy and angular deformity. Fracture from trauma or infection is a common cause of physeal bone bridges.^6,17-19 The etiology of our patient’s distal femoral physeal bone bridge is idiopathic, which is considerably less common than other etiologies, and the incidence of idiopathic physeal bone bridge formation is not well established in the literature. Hresko and Kasser²¹ identified atraumatic physeal bone bridge formations in 7 patients. Among the 13 patients with physeal bone bridges described by Broughton and colleagues,²⁰ the cause of bridge formation is unknown in 1.

Physeal bone bridges that form centrally are particularly challenging because they are difficult to visualize through a peripheral approach. A number of methods for resecting central physeal bone bridges have been described. These methods have varying degrees of success. In 1981, Langenskiöld⁷ first described the creation of a metaphyseal mirror and the use of a dental mirror for visualization. This technique, however, yielded unfavorable results in 16% of patients. Williamson and Staheli⁹ reported poor results in 23% of patients. Loraas and Schmale⁴ described the use of an endoscope, termed an osteoscope, for visualization, citing advantages of superior illumination and potential for image magnification and capture. Marsh and Polzhofer⁸ also showed this technique to have low morbidity but poor results in 13% of patients, whereas Moreta and colleagues¹⁰ reported poor results in 2 out of 5 patients. The rate of poor results of these methods may be related to the technical difficulty of using dental mirrors and arthroscopes and can be improved by highly efficient direct methods with improved visualization, such as the method described in this article.

Continue to: Proper imaging is necessary for...

Proper imaging is necessary for the accurate quantification of bone bridges to determine resectability and to identify the best surgical approach to resection. MRI with software for the generation of 3-D physeal maps is a reproducible method with good interobserver reliability.^22,23 Intraoperative computer-assisted imaging also is beneficial for determining the extent and location of the resection to ensure complete bone bridge removal.²⁴

To our knowledge, a direct approach through parapatellar arthrotomy for the resection of a centrally located distal femoral physeal bone bridge has not been previously described. This novel technique provided direct access to the physeal bone bridge and was performed without injuring the adjacent physeal cartilage in the medial and lateral columns of the distal femur, which may grow normally in the absence of the bridge. Instead of using a lateral or medial approach with a metaphyseal window,⁴ we directly approached this central bar through a parapatellar approach and were able to completely resect it under direct visualization. This obviated the need for an arthroscope or dental mirror. To remove the entire physeal bone bridge, we needed to resect completely from the anterior cortex to the posterior cortex. Although this technique potentially increased the risk of iatrogenic fracture, we believed that this risk would not differ greatly from that of disrupting the medial or lateral metaphysis and would be more stable with either axial and torsion load. At 3-year follow-up, the patient exhibited restored normal growth in his operative limb relative to that in his nonoperative limb, had not developed angular deformity, and had maintained his previously developed limb-length discrepancy that could be corrected with the epiphysiodesis of his opposite limb at a later date.

The limitations to this technique include the fact that it may be most effective with small-to moderate-sized central physeal bone bridges, although resection has shown good results with up to 70% physeal involvement.⁸ In this patient, the bone bridge was moderately sized (30% of the physis), centrally located, and clearly visible on fluoroscopy. These characteristics increased the technical safety and ease of the procedure. The resection of large, peripheral bridges may destabilize the distal femur. The destabilization of the distal femur, in turn, can lead to fracture. Patellofemoral mechanics may also be affected during the treatment of distal femoral physeal bone bridges. This patient has not experienced any patellofemoral dysfunction or symptoms. Given the patient’s age and significant amount of remaining growth, he will need close monitoring until he reaches skeletal maturity.

This paper will be judged for the Resident Writer’s Award.

ABSTRACT

A central distal femoral physeal bone bridge in a boy aged 5 years and 7 months was resected with a fluoroscopically guided core reamer placed through a lateral parapatellar approach. At 3-year follow-up, the boy’s leg-length discrepancy was 3.0 cm (3.9 cm preoperatively), and the physeal bone bridge did not recur. The patient had full function and no pain or other patellofemoral complaints. This technique provided direct access to the physeal bone bridge, and complete resection was performed without injury to the adjacent physeal cartilage in the medial and lateral columns of the distal femur, which is expected to grow normally in the absence of the bridge.

A physeal bone bridge is an osseous connection that forms across a physis. It may cause partial premature physeal arrest. Angular deformity and limb-length discrepancy are the main complications caused by physeal bone bridges.^1-4 The indications for the treatment of physeal bridges are well documented.^1-5 Trauma and infection are common causes of distal femoral physeal bone bridges. Arkader and colleagues⁶ showed that among different types of physeal bridges, the Salter-Harris type is significantly associated with complications, among which growth arrest is the most common and occurs in 27.4% of all patients.

The treatment of distal femoral physeal bone bridges is technically difficult and provides variable results. Poor results are reported in 13% to 40% of patients.^7-10 Procedure failure has been attributed to incomplete resection with the persistent tethering and dislodgement of the graft.¹¹ Methods with improved efficacy for the removal of central physeal bridges will help prevent reformation after treatment. We have used a novel technique that allows the direct resection of a central physeal bone bridge in the distal femur through the use of a fluoroscopically guided core reamer. This technique enables the complete removal of the bone bridge and the direct visual assessment of the remaining physis. The patient’s parents provided written informed consent for print and electronic publication of this case report.

CASE

A 3-year-old boy with a history of hemifacial microsomia presented for the evaluation of genu valgum and leg-length discrepancy. His intermalleolar distance at that time was 8 cm. A standing radiograph of his lower extremities demonstrated changes consistent with physiologic genu valgum. He had no history of knee trauma, infection, or pain.

At the age of 5 years and 7 months, the patient returned for a repeat evaluation and was noted to exhibit the progressive valgus deformity of the right leg and a leg-length discrepancy of 3.9 cm (Figure 1). 

Continue to: With the patient supine on the operating...

OPERATIVE TECHNIQUE

With the patient supine on the operating table and after the administration of general anesthesia, 3-dimensional (3-D) fluoroscopy was used to localize the bone bridge, which confirmed the fluoroscopic location that was previously visualized through preoperative 3-D imaging. The leg was elevated, and a tourniquet was applied and inflated. A lateral parapatellar approach was used to isolate the distal femoral physis anteriorly because the bone bridge was centered just lateral to the central portion of the distal femoral physis. A Kirschner wire was placed in the center of the bridge under anteroposterior and lateral fluoroscopic imaging (Figures 3A-3E). 

OUTCOME

The patient healed uneventfully, and early range-of-motion exercises were started 6 weeks postoperatively. At 6-month follow-up, his leg-length discrepancy was 2.7 cm, and the bone bridge did not recur. At 3-year follow-up, his leg-length discrepancy was 3.0 cm, and the bone bridge did not recur. Over the 3 years postoperatively, the patient exhibited 9.8 cm of growth on his operative side and 9.5 cm on his nonoperative side (Figure 5). 

DISCUSSION

Given the considerable growth potential of the distal femoral physis,^1,14-16 an injury to the distal femoral physis and the formation of a physeal bone bridge can have a profound effect on a young patient in terms of leg-length discrepancy and angular deformity. Fracture from trauma or infection is a common cause of physeal bone bridges.^6,17-19 The etiology of our patient’s distal femoral physeal bone bridge is idiopathic, which is considerably less common than other etiologies, and the incidence of idiopathic physeal bone bridge formation is not well established in the literature. Hresko and Kasser²¹ identified atraumatic physeal bone bridge formations in 7 patients. Among the 13 patients with physeal bone bridges described by Broughton and colleagues,²⁰ the cause of bridge formation is unknown in 1.

Physeal bone bridges that form centrally are particularly challenging because they are difficult to visualize through a peripheral approach. A number of methods for resecting central physeal bone bridges have been described. These methods have varying degrees of success. In 1981, Langenskiöld⁷ first described the creation of a metaphyseal mirror and the use of a dental mirror for visualization. This technique, however, yielded unfavorable results in 16% of patients. Williamson and Staheli⁹ reported poor results in 23% of patients. Loraas and Schmale⁴ described the use of an endoscope, termed an osteoscope, for visualization, citing advantages of superior illumination and potential for image magnification and capture. Marsh and Polzhofer⁸ also showed this technique to have low morbidity but poor results in 13% of patients, whereas Moreta and colleagues¹⁰ reported poor results in 2 out of 5 patients. The rate of poor results of these methods may be related to the technical difficulty of using dental mirrors and arthroscopes and can be improved by highly efficient direct methods with improved visualization, such as the method described in this article.

Continue to: Proper imaging is necessary for...

Proper imaging is necessary for the accurate quantification of bone bridges to determine resectability and to identify the best surgical approach to resection. MRI with software for the generation of 3-D physeal maps is a reproducible method with good interobserver reliability.^22,23 Intraoperative computer-assisted imaging also is beneficial for determining the extent and location of the resection to ensure complete bone bridge removal.²⁴

To our knowledge, a direct approach through parapatellar arthrotomy for the resection of a centrally located distal femoral physeal bone bridge has not been previously described. This novel technique provided direct access to the physeal bone bridge and was performed without injuring the adjacent physeal cartilage in the medial and lateral columns of the distal femur, which may grow normally in the absence of the bridge. Instead of using a lateral or medial approach with a metaphyseal window,⁴ we directly approached this central bar through a parapatellar approach and were able to completely resect it under direct visualization. This obviated the need for an arthroscope or dental mirror. To remove the entire physeal bone bridge, we needed to resect completely from the anterior cortex to the posterior cortex. Although this technique potentially increased the risk of iatrogenic fracture, we believed that this risk would not differ greatly from that of disrupting the medial or lateral metaphysis and would be more stable with either axial and torsion load. At 3-year follow-up, the patient exhibited restored normal growth in his operative limb relative to that in his nonoperative limb, had not developed angular deformity, and had maintained his previously developed limb-length discrepancy that could be corrected with the epiphysiodesis of his opposite limb at a later date.

The limitations to this technique include the fact that it may be most effective with small-to moderate-sized central physeal bone bridges, although resection has shown good results with up to 70% physeal involvement.⁸ In this patient, the bone bridge was moderately sized (30% of the physis), centrally located, and clearly visible on fluoroscopy. These characteristics increased the technical safety and ease of the procedure. The resection of large, peripheral bridges may destabilize the distal femur. The destabilization of the distal femur, in turn, can lead to fracture. Patellofemoral mechanics may also be affected during the treatment of distal femoral physeal bone bridges. This patient has not experienced any patellofemoral dysfunction or symptoms. Given the patient’s age and significant amount of remaining growth, he will need close monitoring until he reaches skeletal maturity.

This paper will be judged for the Resident Writer’s Award.

ABSTRACT

This case report is a rare form of lymphoma recurrence which presented as tarsal tunnel syndrome. The patient had been previously treated for the malignancy and was presumed to be in remission; however, standard radiology imaging protocols failed to include the distal extremities on these scans. The patient presented to the orthopedic clinic with tarsal tunnel symptoms and a mass in the tarsal tunnel. A complete evaluation resulted in a diagnosis of recurrence of the malignancy. This case illustrates the importance of a thorough medical history and personal review of imaging studies, and how a systematic approach can produce the correct diagnosis for any unknown lesion. Furthermore, this case may prompt oncologists to consider obtaining whole-body fluorodeoxyglucose positron emission tomography computed tomography when evaluating for recurrence in patients.

Nasal-type, extranodal natural killer/T-cell lymphoma (ENKTL) is a rare form of non-Hodgkin lymphoma (NHL). Malignancies account for only 10% of NHL in Asian and South American populations. However, in Caucasians, it represents <1% of all cases. In addition, at 3:1 male to female ratio, the disease most commonly affects male patients who are 50 to 59 years old.^1-3 The etiology of this malignancy is strongly related to prior infection with Epstein-Barr virus (EBV) as EBV-encoded early small ribonucleic acid on in situ hybridization of lymphoma cells is positive in 95% of cases.^4-6

Typical sites of involvement include the nasal cavity, nasopharynx, and sinuses, causing patients to present with nasal obstruction, chronic sinusitis, or epistaxis. Additionally, ENKTL can occur primarily in the skin, gastrointestinal tract, spleen, and testis, whereas the bone marrow may be involved in 10% of cases. Although rare, unusual sites, including muscle, adrenals, and ovaries, have been published.^7,8

Staging is best performed using the T-staging system, which accounts for the extent of local tumor involvement. Higher stages, such as T3 /T4, equate to locally advanced disease and imply a worse prognosis.^9,10 Computed tomography (CT) and magnetic resonance imaging (MRI) help define local soft tissues and bony involvement. Furthermore, CT of the chest, abdomen, and pelvis as well as bone marrow biopsy are performed as part of the staging process. Lastly, fluorine-18 fluorodeoxyglucose positron emission tomography CT (18-FDG PET-CT) is often used to detect extranodal spread, define the extent of involvement, differentiate between lymphoma and inflammatory masses, and monitor for recurrence.¹¹

Treatment for local ENKTL involves concurrent chemoradiotherapy followed by 3 cycles of etoposide, ifosfamide, cisplatin, and dexamethasone, which results in a complete response rate of 80%, and is the most favorable when comparing treatment modalities.¹² Unfortunately, recurrence rates reach as high as 50%, whereas the 5-year survival rate is 59%.^13,14 For recurrent or disseminated disease, high-dose chemotherapy and hematopoietic stem cell transplantation remain as alternative treatments for patients who have undergone 2 complete remissions and can be curative in some instances.^13,15

Continue to: In summary, ENKTL is a rare form...

CASE

A 59-year-old Caucasian woman was referred to the orthopedic foot and ankle clinic by her primary care physician for right medial ankle pain, skin ulceration, and numbness over the plantar aspect of her right foot. Upon questioning, the patient noted that the pain and numbness were present for almost 6 months. She denied trauma to the concerned area. Previously, the patient was observed and treated elsewhere for plantar fasciitis and was prescribed a brace before being immobilized in a controlled ankle motion (CAM) boot for 6 weeks. At follow-up with her outside provider, the patient had developed skin breakdown over the medial aspect of the right ankle, and this condition was presumed to be caused by the boot. After local wound care failed to improve her skin ulceration, she returned to her primary care physician, who ordered an MRI of the area and referred her to our specialty clinic.

Upon review, the patient’s past medical history included a diagnosis of nasal-type ENKTL. Her malignancy was treated with chemoradiotherapy 2 years prior to her consultation with the foot and ankle clinic.

The patient was noted by her medical oncologist and interventional radiologist to be in complete stage 4 remission since being treated. She underwent routine MRI and CT scans of the head and neck at 6-month intervals and FDG PET-CT scans at 3-month intervals, as per institutional protocol. The examinations showed no evidence of malignancy or metabolically active disease. The last imaging study occurred 2 months prior to admission to the foot and ankle clinic.

The patient consulted her medical oncologist 1 month prior to presenting to our clinic and was noted to exhibit an “excellent response to chemoradiotherapy” and “continues to remain disease free at 2 years.” She was instructed to continue routine follow-up. However, the office notes mentioned no ankle pain and non-healing wounds.

During physical examination, the patient presented an antalgic gait on the right side. Inspection demonstrated an increased circumference of the right ankle compared with the left, with a soft, palpable mass over the medial aspect of her right ankle. A 3 cm × 2 cm, grade 2 abrasion of the skin was observed over the medial mass just posterior to her medial malleolus. Range of motion was within normal limits. The patient exhibited a palpable posterior tibial artery pulse and full strength upon muscle testing of the lower extremities. She featured a positive Tinel’s sign and discomfort over the mass itself, with the pain radiating down to the plantar aspect of her foot and diffuse numbness over the plantar aspect of the foot.

Continue to: Review of her plain radiographs...

At presentation, our differential diagnosis included recurrence of the malignancy, secondary malignancy, infection, and inflammatory disease. After a lengthy discussion with the patient and consultation with our institution’s musculoskeletal oncologist, the decision was made to perform a right-ankle mass biopsy and marginal excision with wound irrigation and débridement and tarsal tunnel release.

The patient was placed in the supine position with standard prepping and draping. The medial eschar was excised in an elliptical fashion, and a curvilinear, longitudinal approach was performed within the compartment to access the mass along the posteromedial aspect of the ankle. Although no evidence of infection was observed, the tissue was thickened with areas of necrosis down to the flexor retinaculum. Once the flexor retinaculum was opened, a fibrous, plaque-like mass was observed, and it was encased with flexor tendons and neurovascular structures of the tarsal tunnel. After mass excision, a complete tarsal tunnel release was performed until the neurovascular bundle was free. Irrigation and débridement of the ulcer were performed along with complicated wound closure, and the patient was placed in a well-padded postoperative splint.

Pathology was finalized as a recurrent, EBV-positive, and nasal-type ENKTL. The patient underwent bone marrow biopsy, which yielded negative results. CT of the chest, abdomen, and pelvis were negative for the disease. FDG PET-CT, which included the extremities, was performed and demonstrated increased uptake in the right ankle, consistent with the malignancy (Figure 4). 

DISCUSSION

ENKTL is an uncommon form of lymphoma and is exceedingly rare in Caucasian females.^1-3 Although the patient’s primary occurrence was in the nasal cavity, recurrence in the foot and ankle must still be described.^7,8 To our knowledge, this article is one of the first published cases of a patient who developed a rare-recurrence ENKTL about the foot and ankle. Occurrence in extremities is extremely rare that the staging protocol does not include FDG PET-CT of these areas. The patient’s “negative” scans led many providers to neglect the symptoms in her right ankle until the lesion had ulcerated through the skin. If one would have relied on imaging reports and outside records alone, the diagnosis would have been delayed longer or missed all together. This case illustrates the importance of a thorough medical history and personal review of imaging studies, and how a systematic approach can produce the correct diagnosis for any unknown lesion. Furthermore, this case may prompt oncologists to consider obtaining whole-body FDG PET-CT when evaluating for recurrence in patients.

ABSTRACT

This case report is a rare form of lymphoma recurrence which presented as tarsal tunnel syndrome. The patient had been previously treated for the malignancy and was presumed to be in remission; however, standard radiology imaging protocols failed to include the distal extremities on these scans. The patient presented to the orthopedic clinic with tarsal tunnel symptoms and a mass in the tarsal tunnel. A complete evaluation resulted in a diagnosis of recurrence of the malignancy. This case illustrates the importance of a thorough medical history and personal review of imaging studies, and how a systematic approach can produce the correct diagnosis for any unknown lesion. Furthermore, this case may prompt oncologists to consider obtaining whole-body fluorodeoxyglucose positron emission tomography computed tomography when evaluating for recurrence in patients.

Nasal-type, extranodal natural killer/T-cell lymphoma (ENKTL) is a rare form of non-Hodgkin lymphoma (NHL). Malignancies account for only 10% of NHL in Asian and South American populations. However, in Caucasians, it represents <1% of all cases. In addition, at 3:1 male to female ratio, the disease most commonly affects male patients who are 50 to 59 years old.^1-3 The etiology of this malignancy is strongly related to prior infection with Epstein-Barr virus (EBV) as EBV-encoded early small ribonucleic acid on in situ hybridization of lymphoma cells is positive in 95% of cases.^4-6

Typical sites of involvement include the nasal cavity, nasopharynx, and sinuses, causing patients to present with nasal obstruction, chronic sinusitis, or epistaxis. Additionally, ENKTL can occur primarily in the skin, gastrointestinal tract, spleen, and testis, whereas the bone marrow may be involved in 10% of cases. Although rare, unusual sites, including muscle, adrenals, and ovaries, have been published.^7,8

Staging is best performed using the T-staging system, which accounts for the extent of local tumor involvement. Higher stages, such as T3 /T4, equate to locally advanced disease and imply a worse prognosis.^9,10 Computed tomography (CT) and magnetic resonance imaging (MRI) help define local soft tissues and bony involvement. Furthermore, CT of the chest, abdomen, and pelvis as well as bone marrow biopsy are performed as part of the staging process. Lastly, fluorine-18 fluorodeoxyglucose positron emission tomography CT (18-FDG PET-CT) is often used to detect extranodal spread, define the extent of involvement, differentiate between lymphoma and inflammatory masses, and monitor for recurrence.¹¹

Treatment for local ENKTL involves concurrent chemoradiotherapy followed by 3 cycles of etoposide, ifosfamide, cisplatin, and dexamethasone, which results in a complete response rate of 80%, and is the most favorable when comparing treatment modalities.¹² Unfortunately, recurrence rates reach as high as 50%, whereas the 5-year survival rate is 59%.^13,14 For recurrent or disseminated disease, high-dose chemotherapy and hematopoietic stem cell transplantation remain as alternative treatments for patients who have undergone 2 complete remissions and can be curative in some instances.^13,15

Continue to: In summary, ENKTL is a rare form...

CASE

A 59-year-old Caucasian woman was referred to the orthopedic foot and ankle clinic by her primary care physician for right medial ankle pain, skin ulceration, and numbness over the plantar aspect of her right foot. Upon questioning, the patient noted that the pain and numbness were present for almost 6 months. She denied trauma to the concerned area. Previously, the patient was observed and treated elsewhere for plantar fasciitis and was prescribed a brace before being immobilized in a controlled ankle motion (CAM) boot for 6 weeks. At follow-up with her outside provider, the patient had developed skin breakdown over the medial aspect of the right ankle, and this condition was presumed to be caused by the boot. After local wound care failed to improve her skin ulceration, she returned to her primary care physician, who ordered an MRI of the area and referred her to our specialty clinic.

Upon review, the patient’s past medical history included a diagnosis of nasal-type ENKTL. Her malignancy was treated with chemoradiotherapy 2 years prior to her consultation with the foot and ankle clinic.

The patient was noted by her medical oncologist and interventional radiologist to be in complete stage 4 remission since being treated. She underwent routine MRI and CT scans of the head and neck at 6-month intervals and FDG PET-CT scans at 3-month intervals, as per institutional protocol. The examinations showed no evidence of malignancy or metabolically active disease. The last imaging study occurred 2 months prior to admission to the foot and ankle clinic.

The patient consulted her medical oncologist 1 month prior to presenting to our clinic and was noted to exhibit an “excellent response to chemoradiotherapy” and “continues to remain disease free at 2 years.” She was instructed to continue routine follow-up. However, the office notes mentioned no ankle pain and non-healing wounds.

During physical examination, the patient presented an antalgic gait on the right side. Inspection demonstrated an increased circumference of the right ankle compared with the left, with a soft, palpable mass over the medial aspect of her right ankle. A 3 cm × 2 cm, grade 2 abrasion of the skin was observed over the medial mass just posterior to her medial malleolus. Range of motion was within normal limits. The patient exhibited a palpable posterior tibial artery pulse and full strength upon muscle testing of the lower extremities. She featured a positive Tinel’s sign and discomfort over the mass itself, with the pain radiating down to the plantar aspect of her foot and diffuse numbness over the plantar aspect of the foot.

Continue to: Review of her plain radiographs...

At presentation, our differential diagnosis included recurrence of the malignancy, secondary malignancy, infection, and inflammatory disease. After a lengthy discussion with the patient and consultation with our institution’s musculoskeletal oncologist, the decision was made to perform a right-ankle mass biopsy and marginal excision with wound irrigation and débridement and tarsal tunnel release.

The patient was placed in the supine position with standard prepping and draping. The medial eschar was excised in an elliptical fashion, and a curvilinear, longitudinal approach was performed within the compartment to access the mass along the posteromedial aspect of the ankle. Although no evidence of infection was observed, the tissue was thickened with areas of necrosis down to the flexor retinaculum. Once the flexor retinaculum was opened, a fibrous, plaque-like mass was observed, and it was encased with flexor tendons and neurovascular structures of the tarsal tunnel. After mass excision, a complete tarsal tunnel release was performed until the neurovascular bundle was free. Irrigation and débridement of the ulcer were performed along with complicated wound closure, and the patient was placed in a well-padded postoperative splint.

Pathology was finalized as a recurrent, EBV-positive, and nasal-type ENKTL. The patient underwent bone marrow biopsy, which yielded negative results. CT of the chest, abdomen, and pelvis were negative for the disease. FDG PET-CT, which included the extremities, was performed and demonstrated increased uptake in the right ankle, consistent with the malignancy (Figure 4). 

DISCUSSION

ENKTL is an uncommon form of lymphoma and is exceedingly rare in Caucasian females.^1-3 Although the patient’s primary occurrence was in the nasal cavity, recurrence in the foot and ankle must still be described.^7,8 To our knowledge, this article is one of the first published cases of a patient who developed a rare-recurrence ENKTL about the foot and ankle. Occurrence in extremities is extremely rare that the staging protocol does not include FDG PET-CT of these areas. The patient’s “negative” scans led many providers to neglect the symptoms in her right ankle until the lesion had ulcerated through the skin. If one would have relied on imaging reports and outside records alone, the diagnosis would have been delayed longer or missed all together. This case illustrates the importance of a thorough medical history and personal review of imaging studies, and how a systematic approach can produce the correct diagnosis for any unknown lesion. Furthermore, this case may prompt oncologists to consider obtaining whole-body FDG PET-CT when evaluating for recurrence in patients.

ABSTRACT

This case report is a rare form of lymphoma recurrence which presented as tarsal tunnel syndrome. The patient had been previously treated for the malignancy and was presumed to be in remission; however, standard radiology imaging protocols failed to include the distal extremities on these scans. The patient presented to the orthopedic clinic with tarsal tunnel symptoms and a mass in the tarsal tunnel. A complete evaluation resulted in a diagnosis of recurrence of the malignancy. This case illustrates the importance of a thorough medical history and personal review of imaging studies, and how a systematic approach can produce the correct diagnosis for any unknown lesion. Furthermore, this case may prompt oncologists to consider obtaining whole-body fluorodeoxyglucose positron emission tomography computed tomography when evaluating for recurrence in patients.

Nasal-type, extranodal natural killer/T-cell lymphoma (ENKTL) is a rare form of non-Hodgkin lymphoma (NHL). Malignancies account for only 10% of NHL in Asian and South American populations. However, in Caucasians, it represents <1% of all cases. In addition, at 3:1 male to female ratio, the disease most commonly affects male patients who are 50 to 59 years old.^1-3 The etiology of this malignancy is strongly related to prior infection with Epstein-Barr virus (EBV) as EBV-encoded early small ribonucleic acid on in situ hybridization of lymphoma cells is positive in 95% of cases.^4-6

Typical sites of involvement include the nasal cavity, nasopharynx, and sinuses, causing patients to present with nasal obstruction, chronic sinusitis, or epistaxis. Additionally, ENKTL can occur primarily in the skin, gastrointestinal tract, spleen, and testis, whereas the bone marrow may be involved in 10% of cases. Although rare, unusual sites, including muscle, adrenals, and ovaries, have been published.^7,8

Staging is best performed using the T-staging system, which accounts for the extent of local tumor involvement. Higher stages, such as T3 /T4, equate to locally advanced disease and imply a worse prognosis.^9,10 Computed tomography (CT) and magnetic resonance imaging (MRI) help define local soft tissues and bony involvement. Furthermore, CT of the chest, abdomen, and pelvis as well as bone marrow biopsy are performed as part of the staging process. Lastly, fluorine-18 fluorodeoxyglucose positron emission tomography CT (18-FDG PET-CT) is often used to detect extranodal spread, define the extent of involvement, differentiate between lymphoma and inflammatory masses, and monitor for recurrence.¹¹

Treatment for local ENKTL involves concurrent chemoradiotherapy followed by 3 cycles of etoposide, ifosfamide, cisplatin, and dexamethasone, which results in a complete response rate of 80%, and is the most favorable when comparing treatment modalities.¹² Unfortunately, recurrence rates reach as high as 50%, whereas the 5-year survival rate is 59%.^13,14 For recurrent or disseminated disease, high-dose chemotherapy and hematopoietic stem cell transplantation remain as alternative treatments for patients who have undergone 2 complete remissions and can be curative in some instances.^13,15

Continue to: In summary, ENKTL is a rare form...

CASE

A 59-year-old Caucasian woman was referred to the orthopedic foot and ankle clinic by her primary care physician for right medial ankle pain, skin ulceration, and numbness over the plantar aspect of her right foot. Upon questioning, the patient noted that the pain and numbness were present for almost 6 months. She denied trauma to the concerned area. Previously, the patient was observed and treated elsewhere for plantar fasciitis and was prescribed a brace before being immobilized in a controlled ankle motion (CAM) boot for 6 weeks. At follow-up with her outside provider, the patient had developed skin breakdown over the medial aspect of the right ankle, and this condition was presumed to be caused by the boot. After local wound care failed to improve her skin ulceration, she returned to her primary care physician, who ordered an MRI of the area and referred her to our specialty clinic.

Upon review, the patient’s past medical history included a diagnosis of nasal-type ENKTL. Her malignancy was treated with chemoradiotherapy 2 years prior to her consultation with the foot and ankle clinic.

The patient was noted by her medical oncologist and interventional radiologist to be in complete stage 4 remission since being treated. She underwent routine MRI and CT scans of the head and neck at 6-month intervals and FDG PET-CT scans at 3-month intervals, as per institutional protocol. The examinations showed no evidence of malignancy or metabolically active disease. The last imaging study occurred 2 months prior to admission to the foot and ankle clinic.

The patient consulted her medical oncologist 1 month prior to presenting to our clinic and was noted to exhibit an “excellent response to chemoradiotherapy” and “continues to remain disease free at 2 years.” She was instructed to continue routine follow-up. However, the office notes mentioned no ankle pain and non-healing wounds.

During physical examination, the patient presented an antalgic gait on the right side. Inspection demonstrated an increased circumference of the right ankle compared with the left, with a soft, palpable mass over the medial aspect of her right ankle. A 3 cm × 2 cm, grade 2 abrasion of the skin was observed over the medial mass just posterior to her medial malleolus. Range of motion was within normal limits. The patient exhibited a palpable posterior tibial artery pulse and full strength upon muscle testing of the lower extremities. She featured a positive Tinel’s sign and discomfort over the mass itself, with the pain radiating down to the plantar aspect of her foot and diffuse numbness over the plantar aspect of the foot.

Continue to: Review of her plain radiographs...

At presentation, our differential diagnosis included recurrence of the malignancy, secondary malignancy, infection, and inflammatory disease. After a lengthy discussion with the patient and consultation with our institution’s musculoskeletal oncologist, the decision was made to perform a right-ankle mass biopsy and marginal excision with wound irrigation and débridement and tarsal tunnel release.

The patient was placed in the supine position with standard prepping and draping. The medial eschar was excised in an elliptical fashion, and a curvilinear, longitudinal approach was performed within the compartment to access the mass along the posteromedial aspect of the ankle. Although no evidence of infection was observed, the tissue was thickened with areas of necrosis down to the flexor retinaculum. Once the flexor retinaculum was opened, a fibrous, plaque-like mass was observed, and it was encased with flexor tendons and neurovascular structures of the tarsal tunnel. After mass excision, a complete tarsal tunnel release was performed until the neurovascular bundle was free. Irrigation and débridement of the ulcer were performed along with complicated wound closure, and the patient was placed in a well-padded postoperative splint.

Pathology was finalized as a recurrent, EBV-positive, and nasal-type ENKTL. The patient underwent bone marrow biopsy, which yielded negative results. CT of the chest, abdomen, and pelvis were negative for the disease. FDG PET-CT, which included the extremities, was performed and demonstrated increased uptake in the right ankle, consistent with the malignancy (Figure 4). 

DISCUSSION

ENKTL is an uncommon form of lymphoma and is exceedingly rare in Caucasian females.^1-3 Although the patient’s primary occurrence was in the nasal cavity, recurrence in the foot and ankle must still be described.^7,8 To our knowledge, this article is one of the first published cases of a patient who developed a rare-recurrence ENKTL about the foot and ankle. Occurrence in extremities is extremely rare that the staging protocol does not include FDG PET-CT of these areas. The patient’s “negative” scans led many providers to neglect the symptoms in her right ankle until the lesion had ulcerated through the skin. If one would have relied on imaging reports and outside records alone, the diagnosis would have been delayed longer or missed all together. This case illustrates the importance of a thorough medical history and personal review of imaging studies, and how a systematic approach can produce the correct diagnosis for any unknown lesion. Furthermore, this case may prompt oncologists to consider obtaining whole-body FDG PET-CT when evaluating for recurrence in patients.

ABSTRACT

The lateral tibial eminence shares a close relationship with the anterior root of the lateral meniscus. Limited studies have reported traumatic injury to the anterior meniscal roots in the setting of tibial eminence fractures, and reported rates of occurrence of concomitant meniscal and chondral injuries vary widely. The purpose of this article is to describe the case of a 28-year-old woman who had a complete avulsion of the anterolateral meniscal root caused by a tibial eminence fracture with resultant malunion and root displacement. The anterolateral meniscal root was anatomically repaired following arthroscopic resection of the malunited fragment.

The lateral tibial eminence is intimately associated with the root attachment of the anterior horn of the lateral meniscus.^1-3 Previous studies have demonstrated both the close proximity of the anterior cruciate ligament (ACL) insertion to the meniscal roots and the potential for disruption in surgical interventions, such as tibial tunnel drilling in ACL reconstruction or placement of intramedullary tibial nails.^4-6 The meniscal roots play a crucial role in force distribution, and disruption of these structures has been shown to significantly increase joint contact forces. Despite the deleterious effects of this injury, limited studies have reported on traumatic injury to the meniscal roots in the setting of tibial eminence fractures.

Reported rates of occurrence of concomitant meniscal and chondral injuries occurring with tibial eminence fractures vary widely, ranging from <5% to 40%.^7,8 Although fractures to the tibial eminence are more common in children, an association between these injuries and concomitant soft tissue injuries, including meniscal, chondral, and collateral ligament injuries, in the adult population has been reported.⁷ Monto and Cameron-Donaldson⁸ used magnetic resonance imaging (MRI) to evaluate tibial eminence fractures in adults and found that 23% of study subjects had associated medial meniscus tears and 18% had lateral meniscus tears. In a similar study, Ishibashi and colleagues⁹ found that 25% of tibial eminence fractures were associated with lateral meniscus tears and 16% with medial meniscus tears.

These studies demonstrate the potential for meniscus injuries during tibial eminence fractures. However, the authors are unaware of any reports of complete tearing of the anterior horn of the lateral meniscus in association with this injury. This is an important injury to recognize and identify intraoperatively because an injury of this nature could potentially compromise the mechanical loading patterns and health of the articular cartilage of the lateral compartment of the knee. The purpose of this article is to describe a complete avulsion of the anterolateral meniscal root due to a tibial eminence fracture with resultant malunion and displacement of the root in a nonanatomical position. The patient provided written informed consent for print and electronic publication of this case report.

Continue to: A 28-year-old active woman...

CASE

A 28-year-old active woman presented to our clinic 22 months after sustaining a right knee tibial eminence fracture that was initially treated with extension immobilization, which resulted in a fibrous malunion. She subsequently sustained a second injury resulting in displacement of the malunion fracture fragment, and was treated at another institution 10 months prior to presentation at our clinic with arthroscopic reduction and internal fixation with a cannulated screw and washer of the tibial eminence fracture. This was followed by hardware removal 6 months prior to her office visit at our clinic. At presentation, she reported worsening right knee pain, mechanical symptoms, and loss of both flexion and extension compared with her uninjured knee. Conservative management, including activity modification, extensive physical therapy, and anti-inflammatory medication following her most recent procedure, had not resulted in improvement of her symptoms.

Physical examination revealed significantly reduced knee flexion and extension (+15°-120° on the affected side compared with 5° of hyperextension to 130° flexion of the contralateral knee). Ligamentous examination demonstrated no laxity with varus or valgus stress at 0° to 30° of flexion, negative posterior drawer, and a Grade 2 Lachman and positive pivot shift. She also exhibited pain with attempted right knee terminal extension. Radiographs and computed tomography scans were obtained and reviewed. They revealed a malunited tibial eminence fracture (Figures 1A-1D).  

Arthroscopic assessment of the right knee demonstrated the large osseous fragment located in the anterolateral aspect of the joint with the displaced anterior horn of the lateral meniscus attached as well as significant anterior impingement limiting knee extension. Probing of the anterolateral meniscal root in the lateral compartment showed abundant surrounding scar tissue with an abnormal attachment, representing a chronic root avulsion. A mechanical shaver was used to débride the scar tissue and expose the malunited fragment, followed by complete osseous fragment excision with a high-speed burr (Figure 3). 

A soft tissue anterolateral meniscal root repair was performed by creating a 2-cm to 3-cm incision on the anterolateral tibia, just distal to the medial aspect of the Gerdy tubercle. To best restore the footprint of the repair and increase the potential for biologic healing, 2 transtibial tunnels were created at the location of the root attachment. An ACL aiming device with a cannulated sleeve was used to drill 2 bony tunnels approximately 5 mm apart, exiting at the anatomic root footprint. The drill pins were removed, leaving the 2 cannulas in place for later suture passage. A suture-passing device was used to pass 2 separate sutures through the detached meniscal root. 

Continue to: Postoperatively, the patient was placed...

Postoperatively, the patient was placed on a non-weight-bearing protocol for her operative lower extremity for 6 weeks. A brace locked in extension was used for the same period of time (being removed only for physical therapy exercises). Enoxaparin was used for the first 2 weeks for deep vein thrombosis prophylaxis, followed by aspirin for an additional 4 weeks. Physical therapy was started on postoperative day 1 to begin working on early passive ROM exercises. Knee flexion was limited to 0° to 90° of flexion for the first 2 weeks and then progressed as tolerated.

DISCUSSION

This article describes a rare case of a patient with lateral meniscal anterior root avulsion in the setting of a tibial eminence fracture with subsequent malunion and root displacement. In a case such as this, delineation of the true extent of the injury is difficult because the anterior meniscal root can be torn, displaced, and nonanatomically scarred to surrounding soft tissues, making MRI interpretation challenging. Clinically, patients can present with a wide range of symptoms, including pain, mechanical symptoms, instability, and loss of knee motion.¹⁰

The anterior root of the lateral meniscus has been reported to be attached anterior to the lateral tibial eminence and adjacent to the insertion of the ACL. Fibrous connections extending from the anterior horn of the lateral meniscus attachment to the lateral tibial eminence are constant.¹¹ Furumatsu and colleagues¹² demonstrated the existence of dense fibers linking the anterior root of the lateral meniscus with the lateral aspect of the ACL tibial insertion. Acknowledging the close relationship of these structures is key to comprehending the importance of evaluating the anterior horn of the lateral meniscus in cases of tibial eminence fractures at the initial time of injury. Failure to diagnose this pathology can lead to poor clinical outcomes and early degenerative changes of the knee.

Tibial intercondylar eminence avulsion fractures are most likely to occur in children and adolescents, and are equivalent to an ACL tear in adults.¹³ When tibial eminence fractures occur in an older cohort, they are often combined with lesions of the menisci, capsule, or collateral ligaments.¹⁴ The initial injury in our patient demonstrated concomitant anterior root injury that progressed with time to nonanatomical healing of the root, leading to altered biomechanics. Surgical techniques available for meniscal root repair are broadly divided into transosseous suture repairs and suture anchor repairs.¹⁰ The transtibial pullout technique using 2 transtibial bone tunnels as described in this report is the senior author’s (RFL) preference because it provides a strong construct with minimal displacement of the repaired meniscus.^15-17

This article describes a complete avulsion of the anterolateral meniscal root caused by a tibial eminence fracture with resultant malunion and displacement of the root in a nonanatomic position. Anterior meniscal root tears have been reported to result in altered biomechanics and force transmission across the knee, and therefore, anatomic repair of the anterior root is indicated.

ABSTRACT

The lateral tibial eminence shares a close relationship with the anterior root of the lateral meniscus. Limited studies have reported traumatic injury to the anterior meniscal roots in the setting of tibial eminence fractures, and reported rates of occurrence of concomitant meniscal and chondral injuries vary widely. The purpose of this article is to describe the case of a 28-year-old woman who had a complete avulsion of the anterolateral meniscal root caused by a tibial eminence fracture with resultant malunion and root displacement. The anterolateral meniscal root was anatomically repaired following arthroscopic resection of the malunited fragment.

The lateral tibial eminence is intimately associated with the root attachment of the anterior horn of the lateral meniscus.^1-3 Previous studies have demonstrated both the close proximity of the anterior cruciate ligament (ACL) insertion to the meniscal roots and the potential for disruption in surgical interventions, such as tibial tunnel drilling in ACL reconstruction or placement of intramedullary tibial nails.^4-6 The meniscal roots play a crucial role in force distribution, and disruption of these structures has been shown to significantly increase joint contact forces. Despite the deleterious effects of this injury, limited studies have reported on traumatic injury to the meniscal roots in the setting of tibial eminence fractures.

Reported rates of occurrence of concomitant meniscal and chondral injuries occurring with tibial eminence fractures vary widely, ranging from <5% to 40%.^7,8 Although fractures to the tibial eminence are more common in children, an association between these injuries and concomitant soft tissue injuries, including meniscal, chondral, and collateral ligament injuries, in the adult population has been reported.⁷ Monto and Cameron-Donaldson⁸ used magnetic resonance imaging (MRI) to evaluate tibial eminence fractures in adults and found that 23% of study subjects had associated medial meniscus tears and 18% had lateral meniscus tears. In a similar study, Ishibashi and colleagues⁹ found that 25% of tibial eminence fractures were associated with lateral meniscus tears and 16% with medial meniscus tears.

These studies demonstrate the potential for meniscus injuries during tibial eminence fractures. However, the authors are unaware of any reports of complete tearing of the anterior horn of the lateral meniscus in association with this injury. This is an important injury to recognize and identify intraoperatively because an injury of this nature could potentially compromise the mechanical loading patterns and health of the articular cartilage of the lateral compartment of the knee. The purpose of this article is to describe a complete avulsion of the anterolateral meniscal root due to a tibial eminence fracture with resultant malunion and displacement of the root in a nonanatomical position. The patient provided written informed consent for print and electronic publication of this case report.

Continue to: A 28-year-old active woman...

CASE

A 28-year-old active woman presented to our clinic 22 months after sustaining a right knee tibial eminence fracture that was initially treated with extension immobilization, which resulted in a fibrous malunion. She subsequently sustained a second injury resulting in displacement of the malunion fracture fragment, and was treated at another institution 10 months prior to presentation at our clinic with arthroscopic reduction and internal fixation with a cannulated screw and washer of the tibial eminence fracture. This was followed by hardware removal 6 months prior to her office visit at our clinic. At presentation, she reported worsening right knee pain, mechanical symptoms, and loss of both flexion and extension compared with her uninjured knee. Conservative management, including activity modification, extensive physical therapy, and anti-inflammatory medication following her most recent procedure, had not resulted in improvement of her symptoms.

Physical examination revealed significantly reduced knee flexion and extension (+15°-120° on the affected side compared with 5° of hyperextension to 130° flexion of the contralateral knee). Ligamentous examination demonstrated no laxity with varus or valgus stress at 0° to 30° of flexion, negative posterior drawer, and a Grade 2 Lachman and positive pivot shift. She also exhibited pain with attempted right knee terminal extension. Radiographs and computed tomography scans were obtained and reviewed. They revealed a malunited tibial eminence fracture (Figures 1A-1D).  

Arthroscopic assessment of the right knee demonstrated the large osseous fragment located in the anterolateral aspect of the joint with the displaced anterior horn of the lateral meniscus attached as well as significant anterior impingement limiting knee extension. Probing of the anterolateral meniscal root in the lateral compartment showed abundant surrounding scar tissue with an abnormal attachment, representing a chronic root avulsion. A mechanical shaver was used to débride the scar tissue and expose the malunited fragment, followed by complete osseous fragment excision with a high-speed burr (Figure 3). 

A soft tissue anterolateral meniscal root repair was performed by creating a 2-cm to 3-cm incision on the anterolateral tibia, just distal to the medial aspect of the Gerdy tubercle. To best restore the footprint of the repair and increase the potential for biologic healing, 2 transtibial tunnels were created at the location of the root attachment. An ACL aiming device with a cannulated sleeve was used to drill 2 bony tunnels approximately 5 mm apart, exiting at the anatomic root footprint. The drill pins were removed, leaving the 2 cannulas in place for later suture passage. A suture-passing device was used to pass 2 separate sutures through the detached meniscal root. 

Continue to: Postoperatively, the patient was placed...

Postoperatively, the patient was placed on a non-weight-bearing protocol for her operative lower extremity for 6 weeks. A brace locked in extension was used for the same period of time (being removed only for physical therapy exercises). Enoxaparin was used for the first 2 weeks for deep vein thrombosis prophylaxis, followed by aspirin for an additional 4 weeks. Physical therapy was started on postoperative day 1 to begin working on early passive ROM exercises. Knee flexion was limited to 0° to 90° of flexion for the first 2 weeks and then progressed as tolerated.

DISCUSSION

This article describes a rare case of a patient with lateral meniscal anterior root avulsion in the setting of a tibial eminence fracture with subsequent malunion and root displacement. In a case such as this, delineation of the true extent of the injury is difficult because the anterior meniscal root can be torn, displaced, and nonanatomically scarred to surrounding soft tissues, making MRI interpretation challenging. Clinically, patients can present with a wide range of symptoms, including pain, mechanical symptoms, instability, and loss of knee motion.¹⁰

The anterior root of the lateral meniscus has been reported to be attached anterior to the lateral tibial eminence and adjacent to the insertion of the ACL. Fibrous connections extending from the anterior horn of the lateral meniscus attachment to the lateral tibial eminence are constant.¹¹ Furumatsu and colleagues¹² demonstrated the existence of dense fibers linking the anterior root of the lateral meniscus with the lateral aspect of the ACL tibial insertion. Acknowledging the close relationship of these structures is key to comprehending the importance of evaluating the anterior horn of the lateral meniscus in cases of tibial eminence fractures at the initial time of injury. Failure to diagnose this pathology can lead to poor clinical outcomes and early degenerative changes of the knee.

Tibial intercondylar eminence avulsion fractures are most likely to occur in children and adolescents, and are equivalent to an ACL tear in adults.¹³ When tibial eminence fractures occur in an older cohort, they are often combined with lesions of the menisci, capsule, or collateral ligaments.¹⁴ The initial injury in our patient demonstrated concomitant anterior root injury that progressed with time to nonanatomical healing of the root, leading to altered biomechanics. Surgical techniques available for meniscal root repair are broadly divided into transosseous suture repairs and suture anchor repairs.¹⁰ The transtibial pullout technique using 2 transtibial bone tunnels as described in this report is the senior author’s (RFL) preference because it provides a strong construct with minimal displacement of the repaired meniscus.^15-17

This article describes a complete avulsion of the anterolateral meniscal root caused by a tibial eminence fracture with resultant malunion and displacement of the root in a nonanatomic position. Anterior meniscal root tears have been reported to result in altered biomechanics and force transmission across the knee, and therefore, anatomic repair of the anterior root is indicated.

ABSTRACT

The lateral tibial eminence shares a close relationship with the anterior root of the lateral meniscus. Limited studies have reported traumatic injury to the anterior meniscal roots in the setting of tibial eminence fractures, and reported rates of occurrence of concomitant meniscal and chondral injuries vary widely. The purpose of this article is to describe the case of a 28-year-old woman who had a complete avulsion of the anterolateral meniscal root caused by a tibial eminence fracture with resultant malunion and root displacement. The anterolateral meniscal root was anatomically repaired following arthroscopic resection of the malunited fragment.

The lateral tibial eminence is intimately associated with the root attachment of the anterior horn of the lateral meniscus.^1-3 Previous studies have demonstrated both the close proximity of the anterior cruciate ligament (ACL) insertion to the meniscal roots and the potential for disruption in surgical interventions, such as tibial tunnel drilling in ACL reconstruction or placement of intramedullary tibial nails.^4-6 The meniscal roots play a crucial role in force distribution, and disruption of these structures has been shown to significantly increase joint contact forces. Despite the deleterious effects of this injury, limited studies have reported on traumatic injury to the meniscal roots in the setting of tibial eminence fractures.

Reported rates of occurrence of concomitant meniscal and chondral injuries occurring with tibial eminence fractures vary widely, ranging from <5% to 40%.^7,8 Although fractures to the tibial eminence are more common in children, an association between these injuries and concomitant soft tissue injuries, including meniscal, chondral, and collateral ligament injuries, in the adult population has been reported.⁷ Monto and Cameron-Donaldson⁸ used magnetic resonance imaging (MRI) to evaluate tibial eminence fractures in adults and found that 23% of study subjects had associated medial meniscus tears and 18% had lateral meniscus tears. In a similar study, Ishibashi and colleagues⁹ found that 25% of tibial eminence fractures were associated with lateral meniscus tears and 16% with medial meniscus tears.

These studies demonstrate the potential for meniscus injuries during tibial eminence fractures. However, the authors are unaware of any reports of complete tearing of the anterior horn of the lateral meniscus in association with this injury. This is an important injury to recognize and identify intraoperatively because an injury of this nature could potentially compromise the mechanical loading patterns and health of the articular cartilage of the lateral compartment of the knee. The purpose of this article is to describe a complete avulsion of the anterolateral meniscal root due to a tibial eminence fracture with resultant malunion and displacement of the root in a nonanatomical position. The patient provided written informed consent for print and electronic publication of this case report.

Continue to: A 28-year-old active woman...

CASE

A 28-year-old active woman presented to our clinic 22 months after sustaining a right knee tibial eminence fracture that was initially treated with extension immobilization, which resulted in a fibrous malunion. She subsequently sustained a second injury resulting in displacement of the malunion fracture fragment, and was treated at another institution 10 months prior to presentation at our clinic with arthroscopic reduction and internal fixation with a cannulated screw and washer of the tibial eminence fracture. This was followed by hardware removal 6 months prior to her office visit at our clinic. At presentation, she reported worsening right knee pain, mechanical symptoms, and loss of both flexion and extension compared with her uninjured knee. Conservative management, including activity modification, extensive physical therapy, and anti-inflammatory medication following her most recent procedure, had not resulted in improvement of her symptoms.

Physical examination revealed significantly reduced knee flexion and extension (+15°-120° on the affected side compared with 5° of hyperextension to 130° flexion of the contralateral knee). Ligamentous examination demonstrated no laxity with varus or valgus stress at 0° to 30° of flexion, negative posterior drawer, and a Grade 2 Lachman and positive pivot shift. She also exhibited pain with attempted right knee terminal extension. Radiographs and computed tomography scans were obtained and reviewed. They revealed a malunited tibial eminence fracture (Figures 1A-1D).  

Arthroscopic assessment of the right knee demonstrated the large osseous fragment located in the anterolateral aspect of the joint with the displaced anterior horn of the lateral meniscus attached as well as significant anterior impingement limiting knee extension. Probing of the anterolateral meniscal root in the lateral compartment showed abundant surrounding scar tissue with an abnormal attachment, representing a chronic root avulsion. A mechanical shaver was used to débride the scar tissue and expose the malunited fragment, followed by complete osseous fragment excision with a high-speed burr (Figure 3). 

A soft tissue anterolateral meniscal root repair was performed by creating a 2-cm to 3-cm incision on the anterolateral tibia, just distal to the medial aspect of the Gerdy tubercle. To best restore the footprint of the repair and increase the potential for biologic healing, 2 transtibial tunnels were created at the location of the root attachment. An ACL aiming device with a cannulated sleeve was used to drill 2 bony tunnels approximately 5 mm apart, exiting at the anatomic root footprint. The drill pins were removed, leaving the 2 cannulas in place for later suture passage. A suture-passing device was used to pass 2 separate sutures through the detached meniscal root. 

Continue to: Postoperatively, the patient was placed...

Postoperatively, the patient was placed on a non-weight-bearing protocol for her operative lower extremity for 6 weeks. A brace locked in extension was used for the same period of time (being removed only for physical therapy exercises). Enoxaparin was used for the first 2 weeks for deep vein thrombosis prophylaxis, followed by aspirin for an additional 4 weeks. Physical therapy was started on postoperative day 1 to begin working on early passive ROM exercises. Knee flexion was limited to 0° to 90° of flexion for the first 2 weeks and then progressed as tolerated.

DISCUSSION

This article describes a rare case of a patient with lateral meniscal anterior root avulsion in the setting of a tibial eminence fracture with subsequent malunion and root displacement. In a case such as this, delineation of the true extent of the injury is difficult because the anterior meniscal root can be torn, displaced, and nonanatomically scarred to surrounding soft tissues, making MRI interpretation challenging. Clinically, patients can present with a wide range of symptoms, including pain, mechanical symptoms, instability, and loss of knee motion.¹⁰

The anterior root of the lateral meniscus has been reported to be attached anterior to the lateral tibial eminence and adjacent to the insertion of the ACL. Fibrous connections extending from the anterior horn of the lateral meniscus attachment to the lateral tibial eminence are constant.¹¹ Furumatsu and colleagues¹² demonstrated the existence of dense fibers linking the anterior root of the lateral meniscus with the lateral aspect of the ACL tibial insertion. Acknowledging the close relationship of these structures is key to comprehending the importance of evaluating the anterior horn of the lateral meniscus in cases of tibial eminence fractures at the initial time of injury. Failure to diagnose this pathology can lead to poor clinical outcomes and early degenerative changes of the knee.

Tibial intercondylar eminence avulsion fractures are most likely to occur in children and adolescents, and are equivalent to an ACL tear in adults.¹³ When tibial eminence fractures occur in an older cohort, they are often combined with lesions of the menisci, capsule, or collateral ligaments.¹⁴ The initial injury in our patient demonstrated concomitant anterior root injury that progressed with time to nonanatomical healing of the root, leading to altered biomechanics. Surgical techniques available for meniscal root repair are broadly divided into transosseous suture repairs and suture anchor repairs.¹⁰ The transtibial pullout technique using 2 transtibial bone tunnels as described in this report is the senior author’s (RFL) preference because it provides a strong construct with minimal displacement of the repaired meniscus.^15-17

This article describes a complete avulsion of the anterolateral meniscal root caused by a tibial eminence fracture with resultant malunion and displacement of the root in a nonanatomic position. Anterior meniscal root tears have been reported to result in altered biomechanics and force transmission across the knee, and therefore, anatomic repair of the anterior root is indicated.

Acute appendicitis is a common condition emergency physicians (EPs) encounter in the ED, and it is also one of the most common general surgeries.¹Although stump appendicitis is a rare, long-term complication of appendectomy, it should always be included in the differential diagnosis of patients presenting with right-sided abdominal pain and a history of appendectomy. Delays in diagnosing stump appendicitis can lead to perforation, gangrene, and sepsis.²

Case

A 33-year-old previously healthy man, whose medical history was significant for an appendectomy 6 months earlier, presented to the ED with progressive and worsening right lower quadrant abdominal pain that radiated to his right testicle. The patient stated that the pain started 3 days prior while he was lifting a bale of hay. He further noted having a fever of 102^oF, nausea, and vomiting hours prior to his arrival at the ED.

Upon presentation, the patient’s vital signs were: heart rate, 89 beats/min; respiratory rate, 17 breaths/min; blood pressure, 132/84 mm Hg; and temperature, 98.9°F. Oxygen saturation was 98% on room air. Physical examination revealed exquisite tenderness in the right lower quadrant and suprapubic region. The testicular examination and the remainder of the physical examination were normal. Laboratory evaluation included a complete blood count and urinalysis, the results of which were significant for an elevated white blood cell count of 17 x 10⁹/Lmicroscopic hematuria, trace leukocyte esterase, and ketones.

Discussion

Approximately 7% of patients who present to the ED with abdominal pain are diagnosed with appendicitis.³ Although appendectomy is one of the most common surgical procedures, stump appendicitis is a rare postsurgical complication, with a reported incidence of 1 in 50,000 cases.^4,5

Stump appendicitis is an acute inflammation of the residual appendicular stump; the incidence of stump perforation is approximately 60% to 70%.^4,6 Thus, stump appendicitis has a high morbidity and complication rate. Unfortunately, though stump appendicitis is a condition in which timely diagnosis and intervention are essential to prevent morbidity, due to its rarity and low occurrence, there is often a delay in diagnosis. It is therefore important that EPs include stump appendicitis in the differential diagnosis of patients presenting with right-sided abdominal pain and a history of appendectomy.

Stump appendicitis was initially described by Rose et al in 1945.² This condition is underreported, and the exact causes are still unclear.Of the reported cases of stump appendicitis, approximately 66% developed following an open surgical appendectomy;⁵ therefore, complicated surgery or difficult dissection of the appendix is considered a risk factor for stump appendicitis. Conversely, adequate visualization of the appendiceal base during appendectomy and a stump measuring less than 3 to 5 mm^1,4 are associated with a lower risk for stump appendicitis.

Stump appendicitis can develop as early as a few days postappendectomy or as late as 50 years postappendectomy. Patients with stump appendicitis present with signs and symptoms similar to that of acute appendicitis.^2,4,7 Diagnosis can be made through ultrasound or CT studies, though CT is the preferred modality due to its higher specificity and ability to exclude other causes of right-sided abdominal pain.⁴

Management

Surgical intervention to remove the appendiceal stump is typically the preferred treatment. However, as with our patient, cases of successful and uncomplicated medical management have been reported.^1,2,4

Conclusion

While stump appendicitis is rare, there has been a rise in the number of reported cases over the past few years due to the increasing use and availability of CT.⁴ The diagnosis of stump appendicitis is time-critical to prevent associated complications of stump perforation, gangrene, and sepsis. It is therefore imperative that EPs consider this condition in the differential diagnosis despite a patient history of appendectomy. Our patient presented with a sudden onset of right lower quadrant abdominal pain radiating to his testicle and microscopic hematuria, and stump appendicitis was not in our initial differential diagnosis.

Acute appendicitis is a common condition emergency physicians (EPs) encounter in the ED, and it is also one of the most common general surgeries.¹Although stump appendicitis is a rare, long-term complication of appendectomy, it should always be included in the differential diagnosis of patients presenting with right-sided abdominal pain and a history of appendectomy. Delays in diagnosing stump appendicitis can lead to perforation, gangrene, and sepsis.²

Case

A 33-year-old previously healthy man, whose medical history was significant for an appendectomy 6 months earlier, presented to the ED with progressive and worsening right lower quadrant abdominal pain that radiated to his right testicle. The patient stated that the pain started 3 days prior while he was lifting a bale of hay. He further noted having a fever of 102^oF, nausea, and vomiting hours prior to his arrival at the ED.

Upon presentation, the patient’s vital signs were: heart rate, 89 beats/min; respiratory rate, 17 breaths/min; blood pressure, 132/84 mm Hg; and temperature, 98.9°F. Oxygen saturation was 98% on room air. Physical examination revealed exquisite tenderness in the right lower quadrant and suprapubic region. The testicular examination and the remainder of the physical examination were normal. Laboratory evaluation included a complete blood count and urinalysis, the results of which were significant for an elevated white blood cell count of 17 x 10⁹/Lmicroscopic hematuria, trace leukocyte esterase, and ketones.

Discussion

Approximately 7% of patients who present to the ED with abdominal pain are diagnosed with appendicitis.³ Although appendectomy is one of the most common surgical procedures, stump appendicitis is a rare postsurgical complication, with a reported incidence of 1 in 50,000 cases.^4,5

Stump appendicitis is an acute inflammation of the residual appendicular stump; the incidence of stump perforation is approximately 60% to 70%.^4,6 Thus, stump appendicitis has a high morbidity and complication rate. Unfortunately, though stump appendicitis is a condition in which timely diagnosis and intervention are essential to prevent morbidity, due to its rarity and low occurrence, there is often a delay in diagnosis. It is therefore important that EPs include stump appendicitis in the differential diagnosis of patients presenting with right-sided abdominal pain and a history of appendectomy.

Stump appendicitis was initially described by Rose et al in 1945.² This condition is underreported, and the exact causes are still unclear.Of the reported cases of stump appendicitis, approximately 66% developed following an open surgical appendectomy;⁵ therefore, complicated surgery or difficult dissection of the appendix is considered a risk factor for stump appendicitis. Conversely, adequate visualization of the appendiceal base during appendectomy and a stump measuring less than 3 to 5 mm^1,4 are associated with a lower risk for stump appendicitis.

Stump appendicitis can develop as early as a few days postappendectomy or as late as 50 years postappendectomy. Patients with stump appendicitis present with signs and symptoms similar to that of acute appendicitis.^2,4,7 Diagnosis can be made through ultrasound or CT studies, though CT is the preferred modality due to its higher specificity and ability to exclude other causes of right-sided abdominal pain.⁴

Management

Surgical intervention to remove the appendiceal stump is typically the preferred treatment. However, as with our patient, cases of successful and uncomplicated medical management have been reported.^1,2,4

Conclusion

While stump appendicitis is rare, there has been a rise in the number of reported cases over the past few years due to the increasing use and availability of CT.⁴ The diagnosis of stump appendicitis is time-critical to prevent associated complications of stump perforation, gangrene, and sepsis. It is therefore imperative that EPs consider this condition in the differential diagnosis despite a patient history of appendectomy. Our patient presented with a sudden onset of right lower quadrant abdominal pain radiating to his testicle and microscopic hematuria, and stump appendicitis was not in our initial differential diagnosis.

Acute appendicitis is a common condition emergency physicians (EPs) encounter in the ED, and it is also one of the most common general surgeries.¹Although stump appendicitis is a rare, long-term complication of appendectomy, it should always be included in the differential diagnosis of patients presenting with right-sided abdominal pain and a history of appendectomy. Delays in diagnosing stump appendicitis can lead to perforation, gangrene, and sepsis.²

Case

A 33-year-old previously healthy man, whose medical history was significant for an appendectomy 6 months earlier, presented to the ED with progressive and worsening right lower quadrant abdominal pain that radiated to his right testicle. The patient stated that the pain started 3 days prior while he was lifting a bale of hay. He further noted having a fever of 102^oF, nausea, and vomiting hours prior to his arrival at the ED.

Upon presentation, the patient’s vital signs were: heart rate, 89 beats/min; respiratory rate, 17 breaths/min; blood pressure, 132/84 mm Hg; and temperature, 98.9°F. Oxygen saturation was 98% on room air. Physical examination revealed exquisite tenderness in the right lower quadrant and suprapubic region. The testicular examination and the remainder of the physical examination were normal. Laboratory evaluation included a complete blood count and urinalysis, the results of which were significant for an elevated white blood cell count of 17 x 10⁹/Lmicroscopic hematuria, trace leukocyte esterase, and ketones.

Discussion

Approximately 7% of patients who present to the ED with abdominal pain are diagnosed with appendicitis.³ Although appendectomy is one of the most common surgical procedures, stump appendicitis is a rare postsurgical complication, with a reported incidence of 1 in 50,000 cases.^4,5

Stump appendicitis is an acute inflammation of the residual appendicular stump; the incidence of stump perforation is approximately 60% to 70%.^4,6 Thus, stump appendicitis has a high morbidity and complication rate. Unfortunately, though stump appendicitis is a condition in which timely diagnosis and intervention are essential to prevent morbidity, due to its rarity and low occurrence, there is often a delay in diagnosis. It is therefore important that EPs include stump appendicitis in the differential diagnosis of patients presenting with right-sided abdominal pain and a history of appendectomy.

Stump appendicitis was initially described by Rose et al in 1945.² This condition is underreported, and the exact causes are still unclear.Of the reported cases of stump appendicitis, approximately 66% developed following an open surgical appendectomy;⁵ therefore, complicated surgery or difficult dissection of the appendix is considered a risk factor for stump appendicitis. Conversely, adequate visualization of the appendiceal base during appendectomy and a stump measuring less than 3 to 5 mm^1,4 are associated with a lower risk for stump appendicitis.

Stump appendicitis can develop as early as a few days postappendectomy or as late as 50 years postappendectomy. Patients with stump appendicitis present with signs and symptoms similar to that of acute appendicitis.^2,4,7 Diagnosis can be made through ultrasound or CT studies, though CT is the preferred modality due to its higher specificity and ability to exclude other causes of right-sided abdominal pain.⁴

Management

Surgical intervention to remove the appendiceal stump is typically the preferred treatment. However, as with our patient, cases of successful and uncomplicated medical management have been reported.^1,2,4

Conclusion

While stump appendicitis is rare, there has been a rise in the number of reported cases over the past few years due to the increasing use and availability of CT.⁴ The diagnosis of stump appendicitis is time-critical to prevent associated complications of stump perforation, gangrene, and sepsis. It is therefore imperative that EPs consider this condition in the differential diagnosis despite a patient history of appendectomy. Our patient presented with a sudden onset of right lower quadrant abdominal pain radiating to his testicle and microscopic hematuria, and stump appendicitis was not in our initial differential diagnosis.

Systemic sclerosis (SSc), also called scleroderma, is a rare but serious autoimmune connective tissue disease that has multiple fluctuating pathologic manifestations throughout its temporal course. Estimates have shown that the incidence is 10 to 20 cases per 1 million, and the prevalence is 4 to 253 cases per 1 million.^1,2 Given the rarity of this incurable condition, it is vital that primary care providers (PCPs) are able to recognize its unique features early to limit and prevent acute and chronic complications. This case report discusses a patient’s journey with late-diagnosed scleroderma in order to convey these broad manifestations and what providers can do to manage it with their patients.

Case Presentation

Mr. P is a 60-year-old African American male with a history of hypertension, recurrent digital ulcers, pulmonary hypertension (PH), interstitial lung disease (ILD), kidney involvement, congestive heart failure (CHF), and gastroesophageal reflux disease (GERD). Mr. P’s workup began in his late 40s with resistant hypertension, resistant GERD, and multiple hospitalizations for hypertensive urgency. It was not until he was 54 years old that he was diagnosed with mixed connective tissue disorder with sclerodermatous predominance.

Review of systems throughout his medical examinations in his 50s were notable for skin tightening over his hands and shoulders, skin hypopigmentation over his scalp and face, and hair loss. Mr. P was found to have Raynaud phenomenon beginning with his original presentation and digital ulceration without complications of gangrene or autoamputation. Aggregate physical examinations were notable for digital ulceration, skin tightening/sclerodactyly, and telangiectasia. Serologic markers were notable for the following:

• Positive ANA (antinuclear antibody) with titer of 1:1,280/homogenous pattern;
• Positive anti-RNP (antiribonucleoprotein) with titer of 171.2;
• Positive anti-Scl-70 (antitopoisomerase I) with titer of 108.1;
• Positive anti-SM (anti-Smith antibody) with titer of 30.2;
• Positive anti-Ro (SSA) with titer of 107.6;
• Negative anti-La (SSB) with titer of 1.3;
• Negative anti-dsDNA (anti-double stranded DNA) with titer of 9; and
• Negative ACA (anticentromere antibody).

Early transthoracic echocardiograms revealed an ejection fraction (EF) initially at 55% with evidence of left ventricular hypertrophy. Following treatment with phosphodiesterase-5 inhibitors (PDE-5 inhibitors) and endothelin-1 antagonists for pulmonary hypertension, serial transthoracic echocardiograms showed improvement in his EF. 

A chest X-ray did not show signs of ILD, but a subsequent high-resolution computed tomography (HRCT) scan was consistent with chronic ILD with a main pulmonary artery diameter of 3 cm (Figure 1). 

In subsequent years, Mr. P was hospitalized several times, secondary to digit pain, ulcerations, and osteomyelitis. His first episode was 1 year after his scleroderma diagnosis, when he was hospitalized for 6 days for complications of SSc and finger pain. The following year, he had a 3-day hospitalization for hypertensive urgency and right third-digit osteomyelitis, treated initially with IV fluids, levofloxacin, and vancomycin, and then ceftaroline for 1 month. Throughout the next 6 years, Mr. P presented multiple times with fingertip ulcerations and was followed in the Infectious Disease clinic for recurrent osteomyelitis. He found some relief with systemic antibiotics, including augmentin, minocycline, moxifloxacin, and doxycycline.

At age 59, he was hospitalized for scleroderma renal crisis (SRC). Early in his disease, his kidney function was normal, but the SRC was discovered after an abrupt rise in his blood pressure (BP) and an increase in serum creatinine (SCr) from 1.2 mg/dL at baseline to 3.06 mg/dL. The presence of brown granular cast in his urine prompted a renal biopsy that showed thrombotic microangiopathy with schistocytes. Mr. P was started on captopril and remained stable with outpatient follow-up for this renal complication.

Discussion

Initial presentation of SSc can occur along a spectrum of its pathophysiology. A more severe presentation, like the one seen in Mr. P, seems to occur more frequently in African American patients relative to white patients.³ Differentiating between the 2 types—diffuse vs limited SSc—is vital to managing patients and disease progression. Limited-type SSc is more common (60%) and less severe with slower progression than is diffuse SSc. 

Diffuse-type SSc (35%) includes features such as skin thickening and tightening, ILD, SRC, tendon friction rubs (palpable crepitus over tendons), and skin pigment changes.⁴ The specific involvement of the renal and cardiopulmonary systems accounts for the higher mortality rates in the diffuse-type.⁵

Many patients with SSc require periodic hospitalizations throughout their life for the acute complications of the disease. Hospitalized patients often range from age 45 to 64 years and are more often female. However, of hospitalized patients with SSc, in-hospital death rates are higher among men.^3,6 Although these rates have decreased as the pathogenesis of SSc has become better understood, it is important to note that in-hospital mortality in 1995 for all patients with SSc was 7.1% and mean length of stay was 7.5 days, and in 2002 to 2003, 6.3% and 6.6 days, respectively.³ Though the burden of this disease has decreased, mortality and hospitalizations continue to persist at high rates. Understanding the pathogenesis, progression, and treatments of SSc are essential to aiding patients with this diagnosis.

Skin Involvement

A common finding and presentation for patients with SSc is related to skin involvement. Common patient complaints and exam findings include calcinosis along extensor tendons and digits, Raynaud phenomenon (seen in more than 95% of patients), sclerodactyly, telangiectasias, hyper/hypopigmentation, and pruritus.⁴ These findings are useful in diagnosing and monitoring patients for disease progression.

Many of the listed skin manifestations affect patients’ quality of life (QOL) but are not directly associated with mortality. However, a common and feared complication includes skin ulcers and osteomyelitis, seen in 48% and 7.7% of patients, respectively.⁷ Digit ulcers, areas with loss of dermis and epidermis distal to the proximal interphalangeal joints (Figures 2A and 2B), are significant because they parallel a more rapid progression of internal organ involvement.⁸ 

Mr. P required multiple hospitalizations and antibiotic regimens for painful digit ulcers complicated by osteomyelitis (Figure 3). 

Treatment usually is aimed at infections that complicate these skin ulcers and are based on site-specific cultures. Preventive measures are aimed at the risk factors associated with digit ulcers, including decreased whole-body warmth, direct trauma to digits, smoking, and vasoconstrictors (eg, cocaine, sympathomimetics).⁸ Some patients may prevent ulcers by using D-penicillamine, mycophenolate mofetil, and cyclophosphamide, although definitive treatment has not been found.⁴ Calcium channel blockers, PDE-5 inhibitors, endothelin receptor antagonists, and prostacyclin analogues also have been used to reduce the severity of Raynaud phenomenon attacks and to decrease the number of digital ulcers (in addition to their beneficial effects on pulmonary involvement).⁸ Additional pharmacologic agents that have been linked to an improvement in Raynaud phenomenon and digital ulcers include statins, angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers, intravenous N-acetylcysteine, vitamin E gel, and surgical options (eg, revascularization and sympathectomy).⁸

Pulmonary Involvement

Systemic sclerosis can lead to 2 complications in the lungs, both present in Mr. P: PAH (mean pulmonary arterial pressure > 25 mm Hg) and ILD, which together make lung involvement the leading cause of death for these patients. Limited-type SSc usually is restricted to PAH, whereas diffuse-type SSc usually leads to ILD.⁴

On diagnosis of SSc, an HRCT is indicated to assess the degree of lung involvement. Mr. P’s HRCT showed a 3-cm main pulmonary artery, suggestive of PAH, in addition to evidence of ILD seen on the chest X-ray (Figure 4). 

Pulmonary arterial hypertension is a common finding in patients with SSc and carries a severe prognosis. Risk factors for the development of PAH, when not present on initial diagnosis, include limited-type SSc; late age of onset; Raynaud phenomenon; decreased DLCO, FVC/DLCO < 1.6; increased N-terminal pro-B-type natriuretic peptide (NT-proBNP) serum levels; and the presence of antibodies.⁹ Patients with both SSc and PAH have a 50% to 87% 1-year survival, whereas patients with idiopathic PAH without connective tissue disease have an 88% 1-year survival.⁹

Many patients with lung involvement are asymptomatic, but some have findings of crackles and interstitial thickening on chest X-ray that can progress to cyanosis and right heart failure (cor pulmonale).¹⁰ On discovery of lung involvement (Figure 5), it is important to follow up with a PFT, primarily because the outcomes and prognosis for patients with SSc are correlated with the presenting severity of ILD and the subsequent progression of their DLCO.^4,10 

Treatment is directed at PAH and ILD separately. For PAH, a PDE-5 inhibitor, such as tadalafil or sildenafil, and an endothelin-1 receptor antagonist, such as ambrisentan or bosentan, are indicated. Other PAH treatments include diuretics and prostacyclin analogues (eg, epoprostenol, treprostinil, or iloprost) in addition to warfarin if patients have a history of thrombotic events.⁴ Mr. P’s pulmonologists deferred treatment with prostacyclin analogues given the potential for adverse effects with endothelin-1 receptor inhibitors, PDE-5 inhibitors, and calcium-channel blockers, although combination studies with bosentan and inhaled iloprost have shown promise.¹¹

Like the skin manifestations of SSc, ILD lacks definitive treatment to prevent disease progression. However, some patients benefit from cyclophosphamide, followed by mycophenolate mofetil—which is usually better tolerated—azathioprine, haematopoietic stem cell transplant as rescue therapy, and lung transplant for life-saving treatment.¹⁰

Renal Involvement

Renal involvement in patients with SSc can have profound effects on QOL. Even without clinical renal involvement, glomerular filtration rate (GFR) usually decreases with the progression of vascular damage correlated with age and disease duration.¹² Patients with a history of digital ulcers, like Mr. P, usually have a lower GFR than that of patients without digital ulcers.¹² Monitoring renal function is vital in caring for these patients, because SRC occurs in 2% to 15% of all patients with SSc.^13,14

Scleroderma renal crisis is generally defined as an abruptly elevated BP (> 140/90 mm Hgor > 30 mm Hg rise from baseline) with acute renal failure (elevated SCr) and decreased urine output.¹⁴ Given the rarity of SSc in the population, diagnosis of SRC requires high clinical suspicion. In the case of Mr. P, a workup involving serum analysis, urinalysis, and renal biopsy allowed for a definitive diagnosis. A renal biopsy can show microangiopathic hemolytic anemia and confirm SRC, although it may not be necessary in patients with known SSc presenting with new hypertension, rising creatinine, and unremarkable urine sediment on microscopy.^14,15

Although an acute SRC can be difficult to predict, monitoring renal function and attention to key factors can assist in discovering this SSc complication. Scleroderma renal crisis usually occurs within the first 4 years of SSc diagnosis, often paralleling rapid progression of skin thickening and tightening with higher rates in both African Americans and males.^13,14 Additional predictive factors include diffuse skin involvement, rapid progression of skin involvement, positive anti-RNA polymerase III antibodies, new anemia, new cardiac events (eg, pericardial effusion, pericarditis, left ventricular insufficiency), CHF, tendon friction rubs, arthritis, and recent (within 3 months) high-dose glucocorticoid use.^4,13-15

The presentation of SRC can be nonspecific, often resembling findings related to acute kidney injury. Patients may report malaise, fatigue, fever, headache, seizure, blurred vision, or dyspnea.¹³ Clinical parametersto examine include systolic BP > 140 mm Hgand/or diastolic BP > 90 mm Hg (or an abrupt rise of > 30 or > 20, respectively), SCr increase by 50%+ or > 120% of the upper normal limit, proteinuria at 2+, high protein:creatinine ratio, hematuria > 2+ or > 10 red blood cells (RBCs), platelets < 100,000/mm³, and hypertensive encephalopathy.¹³ Mr. P presented with fatigue, dyspnea, an abrupt rise in BP (156/96 mm Hg), foamy urine, bilateral lower extremity edema (3.9 g/dL albumin), 2+ RBCs, and a SCr of 2.46 mg/dL on admission (a 205% increase from his last baseline of 1.2 mg/dL).

Treatments have had a large impact on the mortality rates of SRC. Following the introduction of ACE inhibitors, mortality from SRC has decreased from 76% to < 10% over recent decades.¹³ In addition to improving survival, these medications also have improved hospitalization outcomes for these patients.³ Captopril is often the medication of choice given its rapid onset and short duration of action relative to other medications in the same class, such as benazepril, enalapril, fosinopril, lisinopril, quinapril, and ramipril.^4,13 Current clinical trials are assessing the specific renal benefits of endothelin-1 receptor antagonists, which often are used for pulmonary and skin involvement.¹⁴ For patients presenting with acute SRC and uremia, dialysis may be necessary (typically predicted by elevated NT-proBNP serum levels), while the decision for transplantation may be indicated at least 2 years after SRC onset and resolution.^4,13-15

Once the acute crisis resolves, it is important to discuss prognosis with patients. The 1-, 2-, 3-, 5-, and 10-year survival rates are 82%, 74%, 71%, 59%, and 47%, respectively; however, when looking at only male patients at 10 years, the survival rate is 17%.¹³ Prevention of SRC can be addressed with daily BP checks and advising patients to seek medical care if they notice a consecutive 2-day abrupt rise.¹³

Cardiac Involvement

Systemic sclerosis has significant effects on patients’ heart function. The introduction of ACE inhibitors has shifted mortality in SSc patients from predominantly SRC to cardiac causes.⁶ Cardiac involvement can occur through a range of processes, including abnormal cardiac conduction, CHF, diastolic dysfunction, mitral valve nodular thickening, and pericardial effusion.³ Even though patients often present with skin findings, an initial cardiac workup is crucial to understanding disease progression and patient prognosis. The severity of the cutaneous manifestations often predicts the degree of diastolic dysfunction.¹⁶

Clinical evidence of cardiac involvement is seen in 20% to 25% of patients with SSc and is associated with a 70% mortality at 5 years when symptoms are evident.¹⁶ Additionally, right ventricular dysfunction at presentation is the strongest marker for all-mortality prognosis, representing the degree of pulmonary involvement, and includes findings such as progressive shortness of breath and systemic edema.⁹

Given the increasing survival of patients with SSc, cardiac involvement is becoming more evident and prominent. Direct treatments for cardiac manifestations are based on the causative feature, namely, focusing on pulmonary and renal involvement, which can be assessed with periodic echocardiograms evaluating left ventricular EF.

Gastrointestinal Involvement

Along with skin manifestations, the gastrointestinal (GI) involvement of SSc can have a significant impact on patients’ QOL without direct contribution to mortality. One of Mr. P’s earliest symptoms that led to a diagnosis of SSc was GERD, which caused a chronic cough, dental erosions, esophageal erosions, duodenal ulcers, dysphagia, abdominal pain, halitosis, pharyngitis, and weight loss. Esophageal involvement occurs in up to 96% of patients with SSc and can include motility abnormalities (eg, strictures and/or muscle dysfunction), lower esophageal sphincter abnormalities, and Barrett esophagus.¹⁷

Additional symptoms of the GI system linked with SSc can occur anywhere along the GI tract and include gastric antral vascular ectasia, causing GI bleeds and pernicious anemia, gastroparesis, bacterial overgrowth, intestinal malabsorption, pseudo-obstruction due to hypomotility, fecal incontinence due to anorectal involvement, and rarely, primary biliary cirrhosis.^4,17 Decreased mobility of the oral aperture secondary to skin thickening and tightening also can contribute to malnutrition by decreasing oral intake.

Treatments are supportive and target symptom relief. Chronic treatment of GERD is often necessary and includes antacids, histamine-2 receptor blockers, and proton pump inhibitors.⁴ Other medications that can help with symptom relief include motility agents (such as metoclopramide, domperidone, prucalopride, tegaserod, and macrolides), osmotic laxatives, and ursodeoxycholic acid for primary biliary cirrhosis.¹⁷ Surgical intervention should be considered depending on the severity and progression of involvement within the GI tract. Behavioral changes that can improve patient symptoms include facial grimacing and other mouth-stretching exercises, frequent smaller meals followed by maintaining a vertical posture, and high fiber diets.¹⁷

Conclusion

Systemic sclerosis is an autoimmune and connective tissue disease with a pathophysiology that can manifest throughout the body. The organ systems that impact patient outcomes include skin, pulmonary, renal, cardiac, and GI. Primary care providers caring for patients diagnosed with SSc should monitor acute management and disease progression in all these systems. Important acute events that can impact morbidity, mortality, and/or QOL include Raynaud phenomenon, SRC, and pericardial effusion. Chronic manifestations that may be present on diagnosis of SSc or may develop while a patient is under a provider’s care include sclerodactyly, tendon calcinosis, PAH, ILD, chronic kidney injury, chronic cardiac damage, GERD, and esophageal dysmotility. While this discussion serves as a pertinent overview of patients with SSc, it is summative, and providers are encouraged to seek a stronger understanding of both the common and rarer manifestations within each of their patients.

Systemic sclerosis (SSc), also called scleroderma, is a rare but serious autoimmune connective tissue disease that has multiple fluctuating pathologic manifestations throughout its temporal course. Estimates have shown that the incidence is 10 to 20 cases per 1 million, and the prevalence is 4 to 253 cases per 1 million.^1,2 Given the rarity of this incurable condition, it is vital that primary care providers (PCPs) are able to recognize its unique features early to limit and prevent acute and chronic complications. This case report discusses a patient’s journey with late-diagnosed scleroderma in order to convey these broad manifestations and what providers can do to manage it with their patients.

Case Presentation

Mr. P is a 60-year-old African American male with a history of hypertension, recurrent digital ulcers, pulmonary hypertension (PH), interstitial lung disease (ILD), kidney involvement, congestive heart failure (CHF), and gastroesophageal reflux disease (GERD). Mr. P’s workup began in his late 40s with resistant hypertension, resistant GERD, and multiple hospitalizations for hypertensive urgency. It was not until he was 54 years old that he was diagnosed with mixed connective tissue disorder with sclerodermatous predominance.

Review of systems throughout his medical examinations in his 50s were notable for skin tightening over his hands and shoulders, skin hypopigmentation over his scalp and face, and hair loss. Mr. P was found to have Raynaud phenomenon beginning with his original presentation and digital ulceration without complications of gangrene or autoamputation. Aggregate physical examinations were notable for digital ulceration, skin tightening/sclerodactyly, and telangiectasia. Serologic markers were notable for the following:

• Positive ANA (antinuclear antibody) with titer of 1:1,280/homogenous pattern;
• Positive anti-RNP (antiribonucleoprotein) with titer of 171.2;
• Positive anti-Scl-70 (antitopoisomerase I) with titer of 108.1;
• Positive anti-SM (anti-Smith antibody) with titer of 30.2;
• Positive anti-Ro (SSA) with titer of 107.6;
• Negative anti-La (SSB) with titer of 1.3;
• Negative anti-dsDNA (anti-double stranded DNA) with titer of 9; and
• Negative ACA (anticentromere antibody).

Early transthoracic echocardiograms revealed an ejection fraction (EF) initially at 55% with evidence of left ventricular hypertrophy. Following treatment with phosphodiesterase-5 inhibitors (PDE-5 inhibitors) and endothelin-1 antagonists for pulmonary hypertension, serial transthoracic echocardiograms showed improvement in his EF. 

A chest X-ray did not show signs of ILD, but a subsequent high-resolution computed tomography (HRCT) scan was consistent with chronic ILD with a main pulmonary artery diameter of 3 cm (Figure 1). 

In subsequent years, Mr. P was hospitalized several times, secondary to digit pain, ulcerations, and osteomyelitis. His first episode was 1 year after his scleroderma diagnosis, when he was hospitalized for 6 days for complications of SSc and finger pain. The following year, he had a 3-day hospitalization for hypertensive urgency and right third-digit osteomyelitis, treated initially with IV fluids, levofloxacin, and vancomycin, and then ceftaroline for 1 month. Throughout the next 6 years, Mr. P presented multiple times with fingertip ulcerations and was followed in the Infectious Disease clinic for recurrent osteomyelitis. He found some relief with systemic antibiotics, including augmentin, minocycline, moxifloxacin, and doxycycline.

At age 59, he was hospitalized for scleroderma renal crisis (SRC). Early in his disease, his kidney function was normal, but the SRC was discovered after an abrupt rise in his blood pressure (BP) and an increase in serum creatinine (SCr) from 1.2 mg/dL at baseline to 3.06 mg/dL. The presence of brown granular cast in his urine prompted a renal biopsy that showed thrombotic microangiopathy with schistocytes. Mr. P was started on captopril and remained stable with outpatient follow-up for this renal complication.

Discussion

Initial presentation of SSc can occur along a spectrum of its pathophysiology. A more severe presentation, like the one seen in Mr. P, seems to occur more frequently in African American patients relative to white patients.³ Differentiating between the 2 types—diffuse vs limited SSc—is vital to managing patients and disease progression. Limited-type SSc is more common (60%) and less severe with slower progression than is diffuse SSc. 

Diffuse-type SSc (35%) includes features such as skin thickening and tightening, ILD, SRC, tendon friction rubs (palpable crepitus over tendons), and skin pigment changes.⁴ The specific involvement of the renal and cardiopulmonary systems accounts for the higher mortality rates in the diffuse-type.⁵

Many patients with SSc require periodic hospitalizations throughout their life for the acute complications of the disease. Hospitalized patients often range from age 45 to 64 years and are more often female. However, of hospitalized patients with SSc, in-hospital death rates are higher among men.^3,6 Although these rates have decreased as the pathogenesis of SSc has become better understood, it is important to note that in-hospital mortality in 1995 for all patients with SSc was 7.1% and mean length of stay was 7.5 days, and in 2002 to 2003, 6.3% and 6.6 days, respectively.³ Though the burden of this disease has decreased, mortality and hospitalizations continue to persist at high rates. Understanding the pathogenesis, progression, and treatments of SSc are essential to aiding patients with this diagnosis.

Skin Involvement

A common finding and presentation for patients with SSc is related to skin involvement. Common patient complaints and exam findings include calcinosis along extensor tendons and digits, Raynaud phenomenon (seen in more than 95% of patients), sclerodactyly, telangiectasias, hyper/hypopigmentation, and pruritus.⁴ These findings are useful in diagnosing and monitoring patients for disease progression.

Many of the listed skin manifestations affect patients’ quality of life (QOL) but are not directly associated with mortality. However, a common and feared complication includes skin ulcers and osteomyelitis, seen in 48% and 7.7% of patients, respectively.⁷ Digit ulcers, areas with loss of dermis and epidermis distal to the proximal interphalangeal joints (Figures 2A and 2B), are significant because they parallel a more rapid progression of internal organ involvement.⁸ 

Mr. P required multiple hospitalizations and antibiotic regimens for painful digit ulcers complicated by osteomyelitis (Figure 3). 

Treatment usually is aimed at infections that complicate these skin ulcers and are based on site-specific cultures. Preventive measures are aimed at the risk factors associated with digit ulcers, including decreased whole-body warmth, direct trauma to digits, smoking, and vasoconstrictors (eg, cocaine, sympathomimetics).⁸ Some patients may prevent ulcers by using D-penicillamine, mycophenolate mofetil, and cyclophosphamide, although definitive treatment has not been found.⁴ Calcium channel blockers, PDE-5 inhibitors, endothelin receptor antagonists, and prostacyclin analogues also have been used to reduce the severity of Raynaud phenomenon attacks and to decrease the number of digital ulcers (in addition to their beneficial effects on pulmonary involvement).⁸ Additional pharmacologic agents that have been linked to an improvement in Raynaud phenomenon and digital ulcers include statins, angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers, intravenous N-acetylcysteine, vitamin E gel, and surgical options (eg, revascularization and sympathectomy).⁸

Pulmonary Involvement

Systemic sclerosis can lead to 2 complications in the lungs, both present in Mr. P: PAH (mean pulmonary arterial pressure > 25 mm Hg) and ILD, which together make lung involvement the leading cause of death for these patients. Limited-type SSc usually is restricted to PAH, whereas diffuse-type SSc usually leads to ILD.⁴

On diagnosis of SSc, an HRCT is indicated to assess the degree of lung involvement. Mr. P’s HRCT showed a 3-cm main pulmonary artery, suggestive of PAH, in addition to evidence of ILD seen on the chest X-ray (Figure 4). 

Pulmonary arterial hypertension is a common finding in patients with SSc and carries a severe prognosis. Risk factors for the development of PAH, when not present on initial diagnosis, include limited-type SSc; late age of onset; Raynaud phenomenon; decreased DLCO, FVC/DLCO < 1.6; increased N-terminal pro-B-type natriuretic peptide (NT-proBNP) serum levels; and the presence of antibodies.⁹ Patients with both SSc and PAH have a 50% to 87% 1-year survival, whereas patients with idiopathic PAH without connective tissue disease have an 88% 1-year survival.⁹

Many patients with lung involvement are asymptomatic, but some have findings of crackles and interstitial thickening on chest X-ray that can progress to cyanosis and right heart failure (cor pulmonale).¹⁰ On discovery of lung involvement (Figure 5), it is important to follow up with a PFT, primarily because the outcomes and prognosis for patients with SSc are correlated with the presenting severity of ILD and the subsequent progression of their DLCO.^4,10 

Treatment is directed at PAH and ILD separately. For PAH, a PDE-5 inhibitor, such as tadalafil or sildenafil, and an endothelin-1 receptor antagonist, such as ambrisentan or bosentan, are indicated. Other PAH treatments include diuretics and prostacyclin analogues (eg, epoprostenol, treprostinil, or iloprost) in addition to warfarin if patients have a history of thrombotic events.⁴ Mr. P’s pulmonologists deferred treatment with prostacyclin analogues given the potential for adverse effects with endothelin-1 receptor inhibitors, PDE-5 inhibitors, and calcium-channel blockers, although combination studies with bosentan and inhaled iloprost have shown promise.¹¹

Like the skin manifestations of SSc, ILD lacks definitive treatment to prevent disease progression. However, some patients benefit from cyclophosphamide, followed by mycophenolate mofetil—which is usually better tolerated—azathioprine, haematopoietic stem cell transplant as rescue therapy, and lung transplant for life-saving treatment.¹⁰

Renal Involvement

Renal involvement in patients with SSc can have profound effects on QOL. Even without clinical renal involvement, glomerular filtration rate (GFR) usually decreases with the progression of vascular damage correlated with age and disease duration.¹² Patients with a history of digital ulcers, like Mr. P, usually have a lower GFR than that of patients without digital ulcers.¹² Monitoring renal function is vital in caring for these patients, because SRC occurs in 2% to 15% of all patients with SSc.^13,14

Scleroderma renal crisis is generally defined as an abruptly elevated BP (> 140/90 mm Hgor > 30 mm Hg rise from baseline) with acute renal failure (elevated SCr) and decreased urine output.¹⁴ Given the rarity of SSc in the population, diagnosis of SRC requires high clinical suspicion. In the case of Mr. P, a workup involving serum analysis, urinalysis, and renal biopsy allowed for a definitive diagnosis. A renal biopsy can show microangiopathic hemolytic anemia and confirm SRC, although it may not be necessary in patients with known SSc presenting with new hypertension, rising creatinine, and unremarkable urine sediment on microscopy.^14,15

Although an acute SRC can be difficult to predict, monitoring renal function and attention to key factors can assist in discovering this SSc complication. Scleroderma renal crisis usually occurs within the first 4 years of SSc diagnosis, often paralleling rapid progression of skin thickening and tightening with higher rates in both African Americans and males.^13,14 Additional predictive factors include diffuse skin involvement, rapid progression of skin involvement, positive anti-RNA polymerase III antibodies, new anemia, new cardiac events (eg, pericardial effusion, pericarditis, left ventricular insufficiency), CHF, tendon friction rubs, arthritis, and recent (within 3 months) high-dose glucocorticoid use.^4,13-15

The presentation of SRC can be nonspecific, often resembling findings related to acute kidney injury. Patients may report malaise, fatigue, fever, headache, seizure, blurred vision, or dyspnea.¹³ Clinical parametersto examine include systolic BP > 140 mm Hgand/or diastolic BP > 90 mm Hg (or an abrupt rise of > 30 or > 20, respectively), SCr increase by 50%+ or > 120% of the upper normal limit, proteinuria at 2+, high protein:creatinine ratio, hematuria > 2+ or > 10 red blood cells (RBCs), platelets < 100,000/mm³, and hypertensive encephalopathy.¹³ Mr. P presented with fatigue, dyspnea, an abrupt rise in BP (156/96 mm Hg), foamy urine, bilateral lower extremity edema (3.9 g/dL albumin), 2+ RBCs, and a SCr of 2.46 mg/dL on admission (a 205% increase from his last baseline of 1.2 mg/dL).

Treatments have had a large impact on the mortality rates of SRC. Following the introduction of ACE inhibitors, mortality from SRC has decreased from 76% to < 10% over recent decades.¹³ In addition to improving survival, these medications also have improved hospitalization outcomes for these patients.³ Captopril is often the medication of choice given its rapid onset and short duration of action relative to other medications in the same class, such as benazepril, enalapril, fosinopril, lisinopril, quinapril, and ramipril.^4,13 Current clinical trials are assessing the specific renal benefits of endothelin-1 receptor antagonists, which often are used for pulmonary and skin involvement.¹⁴ For patients presenting with acute SRC and uremia, dialysis may be necessary (typically predicted by elevated NT-proBNP serum levels), while the decision for transplantation may be indicated at least 2 years after SRC onset and resolution.^4,13-15

Once the acute crisis resolves, it is important to discuss prognosis with patients. The 1-, 2-, 3-, 5-, and 10-year survival rates are 82%, 74%, 71%, 59%, and 47%, respectively; however, when looking at only male patients at 10 years, the survival rate is 17%.¹³ Prevention of SRC can be addressed with daily BP checks and advising patients to seek medical care if they notice a consecutive 2-day abrupt rise.¹³

Cardiac Involvement

Systemic sclerosis has significant effects on patients’ heart function. The introduction of ACE inhibitors has shifted mortality in SSc patients from predominantly SRC to cardiac causes.⁶ Cardiac involvement can occur through a range of processes, including abnormal cardiac conduction, CHF, diastolic dysfunction, mitral valve nodular thickening, and pericardial effusion.³ Even though patients often present with skin findings, an initial cardiac workup is crucial to understanding disease progression and patient prognosis. The severity of the cutaneous manifestations often predicts the degree of diastolic dysfunction.¹⁶

Clinical evidence of cardiac involvement is seen in 20% to 25% of patients with SSc and is associated with a 70% mortality at 5 years when symptoms are evident.¹⁶ Additionally, right ventricular dysfunction at presentation is the strongest marker for all-mortality prognosis, representing the degree of pulmonary involvement, and includes findings such as progressive shortness of breath and systemic edema.⁹

Given the increasing survival of patients with SSc, cardiac involvement is becoming more evident and prominent. Direct treatments for cardiac manifestations are based on the causative feature, namely, focusing on pulmonary and renal involvement, which can be assessed with periodic echocardiograms evaluating left ventricular EF.

Gastrointestinal Involvement

Along with skin manifestations, the gastrointestinal (GI) involvement of SSc can have a significant impact on patients’ QOL without direct contribution to mortality. One of Mr. P’s earliest symptoms that led to a diagnosis of SSc was GERD, which caused a chronic cough, dental erosions, esophageal erosions, duodenal ulcers, dysphagia, abdominal pain, halitosis, pharyngitis, and weight loss. Esophageal involvement occurs in up to 96% of patients with SSc and can include motility abnormalities (eg, strictures and/or muscle dysfunction), lower esophageal sphincter abnormalities, and Barrett esophagus.¹⁷

Additional symptoms of the GI system linked with SSc can occur anywhere along the GI tract and include gastric antral vascular ectasia, causing GI bleeds and pernicious anemia, gastroparesis, bacterial overgrowth, intestinal malabsorption, pseudo-obstruction due to hypomotility, fecal incontinence due to anorectal involvement, and rarely, primary biliary cirrhosis.^4,17 Decreased mobility of the oral aperture secondary to skin thickening and tightening also can contribute to malnutrition by decreasing oral intake.

Treatments are supportive and target symptom relief. Chronic treatment of GERD is often necessary and includes antacids, histamine-2 receptor blockers, and proton pump inhibitors.⁴ Other medications that can help with symptom relief include motility agents (such as metoclopramide, domperidone, prucalopride, tegaserod, and macrolides), osmotic laxatives, and ursodeoxycholic acid for primary biliary cirrhosis.¹⁷ Surgical intervention should be considered depending on the severity and progression of involvement within the GI tract. Behavioral changes that can improve patient symptoms include facial grimacing and other mouth-stretching exercises, frequent smaller meals followed by maintaining a vertical posture, and high fiber diets.¹⁷

Conclusion

Systemic sclerosis is an autoimmune and connective tissue disease with a pathophysiology that can manifest throughout the body. The organ systems that impact patient outcomes include skin, pulmonary, renal, cardiac, and GI. Primary care providers caring for patients diagnosed with SSc should monitor acute management and disease progression in all these systems. Important acute events that can impact morbidity, mortality, and/or QOL include Raynaud phenomenon, SRC, and pericardial effusion. Chronic manifestations that may be present on diagnosis of SSc or may develop while a patient is under a provider’s care include sclerodactyly, tendon calcinosis, PAH, ILD, chronic kidney injury, chronic cardiac damage, GERD, and esophageal dysmotility. While this discussion serves as a pertinent overview of patients with SSc, it is summative, and providers are encouraged to seek a stronger understanding of both the common and rarer manifestations within each of their patients.

Systemic sclerosis (SSc), also called scleroderma, is a rare but serious autoimmune connective tissue disease that has multiple fluctuating pathologic manifestations throughout its temporal course. Estimates have shown that the incidence is 10 to 20 cases per 1 million, and the prevalence is 4 to 253 cases per 1 million.^1,2 Given the rarity of this incurable condition, it is vital that primary care providers (PCPs) are able to recognize its unique features early to limit and prevent acute and chronic complications. This case report discusses a patient’s journey with late-diagnosed scleroderma in order to convey these broad manifestations and what providers can do to manage it with their patients.

Case Presentation

Mr. P is a 60-year-old African American male with a history of hypertension, recurrent digital ulcers, pulmonary hypertension (PH), interstitial lung disease (ILD), kidney involvement, congestive heart failure (CHF), and gastroesophageal reflux disease (GERD). Mr. P’s workup began in his late 40s with resistant hypertension, resistant GERD, and multiple hospitalizations for hypertensive urgency. It was not until he was 54 years old that he was diagnosed with mixed connective tissue disorder with sclerodermatous predominance.

Review of systems throughout his medical examinations in his 50s were notable for skin tightening over his hands and shoulders, skin hypopigmentation over his scalp and face, and hair loss. Mr. P was found to have Raynaud phenomenon beginning with his original presentation and digital ulceration without complications of gangrene or autoamputation. Aggregate physical examinations were notable for digital ulceration, skin tightening/sclerodactyly, and telangiectasia. Serologic markers were notable for the following:

• Positive ANA (antinuclear antibody) with titer of 1:1,280/homogenous pattern;
• Positive anti-RNP (antiribonucleoprotein) with titer of 171.2;
• Positive anti-Scl-70 (antitopoisomerase I) with titer of 108.1;
• Positive anti-SM (anti-Smith antibody) with titer of 30.2;
• Positive anti-Ro (SSA) with titer of 107.6;
• Negative anti-La (SSB) with titer of 1.3;
• Negative anti-dsDNA (anti-double stranded DNA) with titer of 9; and
• Negative ACA (anticentromere antibody).

Early transthoracic echocardiograms revealed an ejection fraction (EF) initially at 55% with evidence of left ventricular hypertrophy. Following treatment with phosphodiesterase-5 inhibitors (PDE-5 inhibitors) and endothelin-1 antagonists for pulmonary hypertension, serial transthoracic echocardiograms showed improvement in his EF. 

A chest X-ray did not show signs of ILD, but a subsequent high-resolution computed tomography (HRCT) scan was consistent with chronic ILD with a main pulmonary artery diameter of 3 cm (Figure 1). 

In subsequent years, Mr. P was hospitalized several times, secondary to digit pain, ulcerations, and osteomyelitis. His first episode was 1 year after his scleroderma diagnosis, when he was hospitalized for 6 days for complications of SSc and finger pain. The following year, he had a 3-day hospitalization for hypertensive urgency and right third-digit osteomyelitis, treated initially with IV fluids, levofloxacin, and vancomycin, and then ceftaroline for 1 month. Throughout the next 6 years, Mr. P presented multiple times with fingertip ulcerations and was followed in the Infectious Disease clinic for recurrent osteomyelitis. He found some relief with systemic antibiotics, including augmentin, minocycline, moxifloxacin, and doxycycline.

At age 59, he was hospitalized for scleroderma renal crisis (SRC). Early in his disease, his kidney function was normal, but the SRC was discovered after an abrupt rise in his blood pressure (BP) and an increase in serum creatinine (SCr) from 1.2 mg/dL at baseline to 3.06 mg/dL. The presence of brown granular cast in his urine prompted a renal biopsy that showed thrombotic microangiopathy with schistocytes. Mr. P was started on captopril and remained stable with outpatient follow-up for this renal complication.

Discussion

Initial presentation of SSc can occur along a spectrum of its pathophysiology. A more severe presentation, like the one seen in Mr. P, seems to occur more frequently in African American patients relative to white patients.³ Differentiating between the 2 types—diffuse vs limited SSc—is vital to managing patients and disease progression. Limited-type SSc is more common (60%) and less severe with slower progression than is diffuse SSc. 

Diffuse-type SSc (35%) includes features such as skin thickening and tightening, ILD, SRC, tendon friction rubs (palpable crepitus over tendons), and skin pigment changes.⁴ The specific involvement of the renal and cardiopulmonary systems accounts for the higher mortality rates in the diffuse-type.⁵

Many patients with SSc require periodic hospitalizations throughout their life for the acute complications of the disease. Hospitalized patients often range from age 45 to 64 years and are more often female. However, of hospitalized patients with SSc, in-hospital death rates are higher among men.^3,6 Although these rates have decreased as the pathogenesis of SSc has become better understood, it is important to note that in-hospital mortality in 1995 for all patients with SSc was 7.1% and mean length of stay was 7.5 days, and in 2002 to 2003, 6.3% and 6.6 days, respectively.³ Though the burden of this disease has decreased, mortality and hospitalizations continue to persist at high rates. Understanding the pathogenesis, progression, and treatments of SSc are essential to aiding patients with this diagnosis.

Skin Involvement

A common finding and presentation for patients with SSc is related to skin involvement. Common patient complaints and exam findings include calcinosis along extensor tendons and digits, Raynaud phenomenon (seen in more than 95% of patients), sclerodactyly, telangiectasias, hyper/hypopigmentation, and pruritus.⁴ These findings are useful in diagnosing and monitoring patients for disease progression.

Many of the listed skin manifestations affect patients’ quality of life (QOL) but are not directly associated with mortality. However, a common and feared complication includes skin ulcers and osteomyelitis, seen in 48% and 7.7% of patients, respectively.⁷ Digit ulcers, areas with loss of dermis and epidermis distal to the proximal interphalangeal joints (Figures 2A and 2B), are significant because they parallel a more rapid progression of internal organ involvement.⁸ 

Mr. P required multiple hospitalizations and antibiotic regimens for painful digit ulcers complicated by osteomyelitis (Figure 3). 

Treatment usually is aimed at infections that complicate these skin ulcers and are based on site-specific cultures. Preventive measures are aimed at the risk factors associated with digit ulcers, including decreased whole-body warmth, direct trauma to digits, smoking, and vasoconstrictors (eg, cocaine, sympathomimetics).⁸ Some patients may prevent ulcers by using D-penicillamine, mycophenolate mofetil, and cyclophosphamide, although definitive treatment has not been found.⁴ Calcium channel blockers, PDE-5 inhibitors, endothelin receptor antagonists, and prostacyclin analogues also have been used to reduce the severity of Raynaud phenomenon attacks and to decrease the number of digital ulcers (in addition to their beneficial effects on pulmonary involvement).⁸ Additional pharmacologic agents that have been linked to an improvement in Raynaud phenomenon and digital ulcers include statins, angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers, intravenous N-acetylcysteine, vitamin E gel, and surgical options (eg, revascularization and sympathectomy).⁸

Pulmonary Involvement

Systemic sclerosis can lead to 2 complications in the lungs, both present in Mr. P: PAH (mean pulmonary arterial pressure > 25 mm Hg) and ILD, which together make lung involvement the leading cause of death for these patients. Limited-type SSc usually is restricted to PAH, whereas diffuse-type SSc usually leads to ILD.⁴

On diagnosis of SSc, an HRCT is indicated to assess the degree of lung involvement. Mr. P’s HRCT showed a 3-cm main pulmonary artery, suggestive of PAH, in addition to evidence of ILD seen on the chest X-ray (Figure 4). 

Pulmonary arterial hypertension is a common finding in patients with SSc and carries a severe prognosis. Risk factors for the development of PAH, when not present on initial diagnosis, include limited-type SSc; late age of onset; Raynaud phenomenon; decreased DLCO, FVC/DLCO < 1.6; increased N-terminal pro-B-type natriuretic peptide (NT-proBNP) serum levels; and the presence of antibodies.⁹ Patients with both SSc and PAH have a 50% to 87% 1-year survival, whereas patients with idiopathic PAH without connective tissue disease have an 88% 1-year survival.⁹

Many patients with lung involvement are asymptomatic, but some have findings of crackles and interstitial thickening on chest X-ray that can progress to cyanosis and right heart failure (cor pulmonale).¹⁰ On discovery of lung involvement (Figure 5), it is important to follow up with a PFT, primarily because the outcomes and prognosis for patients with SSc are correlated with the presenting severity of ILD and the subsequent progression of their DLCO.^4,10 

Treatment is directed at PAH and ILD separately. For PAH, a PDE-5 inhibitor, such as tadalafil or sildenafil, and an endothelin-1 receptor antagonist, such as ambrisentan or bosentan, are indicated. Other PAH treatments include diuretics and prostacyclin analogues (eg, epoprostenol, treprostinil, or iloprost) in addition to warfarin if patients have a history of thrombotic events.⁴ Mr. P’s pulmonologists deferred treatment with prostacyclin analogues given the potential for adverse effects with endothelin-1 receptor inhibitors, PDE-5 inhibitors, and calcium-channel blockers, although combination studies with bosentan and inhaled iloprost have shown promise.¹¹

Like the skin manifestations of SSc, ILD lacks definitive treatment to prevent disease progression. However, some patients benefit from cyclophosphamide, followed by mycophenolate mofetil—which is usually better tolerated—azathioprine, haematopoietic stem cell transplant as rescue therapy, and lung transplant for life-saving treatment.¹⁰

Renal Involvement

Renal involvement in patients with SSc can have profound effects on QOL. Even without clinical renal involvement, glomerular filtration rate (GFR) usually decreases with the progression of vascular damage correlated with age and disease duration.¹² Patients with a history of digital ulcers, like Mr. P, usually have a lower GFR than that of patients without digital ulcers.¹² Monitoring renal function is vital in caring for these patients, because SRC occurs in 2% to 15% of all patients with SSc.^13,14

Scleroderma renal crisis is generally defined as an abruptly elevated BP (> 140/90 mm Hgor > 30 mm Hg rise from baseline) with acute renal failure (elevated SCr) and decreased urine output.¹⁴ Given the rarity of SSc in the population, diagnosis of SRC requires high clinical suspicion. In the case of Mr. P, a workup involving serum analysis, urinalysis, and renal biopsy allowed for a definitive diagnosis. A renal biopsy can show microangiopathic hemolytic anemia and confirm SRC, although it may not be necessary in patients with known SSc presenting with new hypertension, rising creatinine, and unremarkable urine sediment on microscopy.^14,15

Although an acute SRC can be difficult to predict, monitoring renal function and attention to key factors can assist in discovering this SSc complication. Scleroderma renal crisis usually occurs within the first 4 years of SSc diagnosis, often paralleling rapid progression of skin thickening and tightening with higher rates in both African Americans and males.^13,14 Additional predictive factors include diffuse skin involvement, rapid progression of skin involvement, positive anti-RNA polymerase III antibodies, new anemia, new cardiac events (eg, pericardial effusion, pericarditis, left ventricular insufficiency), CHF, tendon friction rubs, arthritis, and recent (within 3 months) high-dose glucocorticoid use.^4,13-15

The presentation of SRC can be nonspecific, often resembling findings related to acute kidney injury. Patients may report malaise, fatigue, fever, headache, seizure, blurred vision, or dyspnea.¹³ Clinical parametersto examine include systolic BP > 140 mm Hgand/or diastolic BP > 90 mm Hg (or an abrupt rise of > 30 or > 20, respectively), SCr increase by 50%+ or > 120% of the upper normal limit, proteinuria at 2+, high protein:creatinine ratio, hematuria > 2+ or > 10 red blood cells (RBCs), platelets < 100,000/mm³, and hypertensive encephalopathy.¹³ Mr. P presented with fatigue, dyspnea, an abrupt rise in BP (156/96 mm Hg), foamy urine, bilateral lower extremity edema (3.9 g/dL albumin), 2+ RBCs, and a SCr of 2.46 mg/dL on admission (a 205% increase from his last baseline of 1.2 mg/dL).

Treatments have had a large impact on the mortality rates of SRC. Following the introduction of ACE inhibitors, mortality from SRC has decreased from 76% to < 10% over recent decades.¹³ In addition to improving survival, these medications also have improved hospitalization outcomes for these patients.³ Captopril is often the medication of choice given its rapid onset and short duration of action relative to other medications in the same class, such as benazepril, enalapril, fosinopril, lisinopril, quinapril, and ramipril.^4,13 Current clinical trials are assessing the specific renal benefits of endothelin-1 receptor antagonists, which often are used for pulmonary and skin involvement.¹⁴ For patients presenting with acute SRC and uremia, dialysis may be necessary (typically predicted by elevated NT-proBNP serum levels), while the decision for transplantation may be indicated at least 2 years after SRC onset and resolution.^4,13-15

Once the acute crisis resolves, it is important to discuss prognosis with patients. The 1-, 2-, 3-, 5-, and 10-year survival rates are 82%, 74%, 71%, 59%, and 47%, respectively; however, when looking at only male patients at 10 years, the survival rate is 17%.¹³ Prevention of SRC can be addressed with daily BP checks and advising patients to seek medical care if they notice a consecutive 2-day abrupt rise.¹³

Cardiac Involvement

Systemic sclerosis has significant effects on patients’ heart function. The introduction of ACE inhibitors has shifted mortality in SSc patients from predominantly SRC to cardiac causes.⁶ Cardiac involvement can occur through a range of processes, including abnormal cardiac conduction, CHF, diastolic dysfunction, mitral valve nodular thickening, and pericardial effusion.³ Even though patients often present with skin findings, an initial cardiac workup is crucial to understanding disease progression and patient prognosis. The severity of the cutaneous manifestations often predicts the degree of diastolic dysfunction.¹⁶

Clinical evidence of cardiac involvement is seen in 20% to 25% of patients with SSc and is associated with a 70% mortality at 5 years when symptoms are evident.¹⁶ Additionally, right ventricular dysfunction at presentation is the strongest marker for all-mortality prognosis, representing the degree of pulmonary involvement, and includes findings such as progressive shortness of breath and systemic edema.⁹

Given the increasing survival of patients with SSc, cardiac involvement is becoming more evident and prominent. Direct treatments for cardiac manifestations are based on the causative feature, namely, focusing on pulmonary and renal involvement, which can be assessed with periodic echocardiograms evaluating left ventricular EF.

Gastrointestinal Involvement

Along with skin manifestations, the gastrointestinal (GI) involvement of SSc can have a significant impact on patients’ QOL without direct contribution to mortality. One of Mr. P’s earliest symptoms that led to a diagnosis of SSc was GERD, which caused a chronic cough, dental erosions, esophageal erosions, duodenal ulcers, dysphagia, abdominal pain, halitosis, pharyngitis, and weight loss. Esophageal involvement occurs in up to 96% of patients with SSc and can include motility abnormalities (eg, strictures and/or muscle dysfunction), lower esophageal sphincter abnormalities, and Barrett esophagus.¹⁷

Additional symptoms of the GI system linked with SSc can occur anywhere along the GI tract and include gastric antral vascular ectasia, causing GI bleeds and pernicious anemia, gastroparesis, bacterial overgrowth, intestinal malabsorption, pseudo-obstruction due to hypomotility, fecal incontinence due to anorectal involvement, and rarely, primary biliary cirrhosis.^4,17 Decreased mobility of the oral aperture secondary to skin thickening and tightening also can contribute to malnutrition by decreasing oral intake.

Treatments are supportive and target symptom relief. Chronic treatment of GERD is often necessary and includes antacids, histamine-2 receptor blockers, and proton pump inhibitors.⁴ Other medications that can help with symptom relief include motility agents (such as metoclopramide, domperidone, prucalopride, tegaserod, and macrolides), osmotic laxatives, and ursodeoxycholic acid for primary biliary cirrhosis.¹⁷ Surgical intervention should be considered depending on the severity and progression of involvement within the GI tract. Behavioral changes that can improve patient symptoms include facial grimacing and other mouth-stretching exercises, frequent smaller meals followed by maintaining a vertical posture, and high fiber diets.¹⁷

Conclusion

Systemic sclerosis is an autoimmune and connective tissue disease with a pathophysiology that can manifest throughout the body. The organ systems that impact patient outcomes include skin, pulmonary, renal, cardiac, and GI. Primary care providers caring for patients diagnosed with SSc should monitor acute management and disease progression in all these systems. Important acute events that can impact morbidity, mortality, and/or QOL include Raynaud phenomenon, SRC, and pericardial effusion. Chronic manifestations that may be present on diagnosis of SSc or may develop while a patient is under a provider’s care include sclerodactyly, tendon calcinosis, PAH, ILD, chronic kidney injury, chronic cardiac damage, GERD, and esophageal dysmotility. While this discussion serves as a pertinent overview of patients with SSc, it is summative, and providers are encouraged to seek a stronger understanding of both the common and rarer manifestations within each of their patients.

Meningiomas generally present as slow-growing, expanding intracranial lesions and are the most common benign intracranial tumor in adults.¹ Rarely, meningioma exhibits malignant potential and presents as an extracranial soft-tissue mass through extension or as a primary extracranial cutaneous neoplasm. The differential diagnosis of scalp neoplasms must be broadened to include uncommon tumors such as meningioma. We present a rare case of a 68-year-old woman with scalp metastasis of meningioma 11 years after initial resection of the primary tumor.

Case Report

A 68-year-old woman presented for evaluation of an asymptomatic nodule on the left parietal scalp of 2 years’ duration. She denied any headaches, difficulty with balance, vision changes, or changes in mentation. Her medical history was remarkable for a benign meningioma removed from the right parietal scalp 11 years prior without radiation therapy, as well as type 2 diabetes mellitus and arthritis. The patient’s son died from a brain tumor, but the exact tumor type and age at the time of death were unknown. Her current medications included metformin, insulin glargine, aspirin, and a daily multivitamin. She denied any allergies or history of smoking.

Physical examination of the scalp revealed 4 fixed, nontender, flesh-colored nodules: 2 on the left parietal scalp measuring 3.0 cm and 0.8 cm, respectively (Figure 1A); a 0.4-cm nodule on the right posterior occipital scalp; and a 1.6-cm sausage-shaped nodule on the right temple (Figure 1B). No positive lymph nodes were appreciated, and no additional lesions were noted. No additional atypical lesions were noted on full cutaneous examination.

A diagnostic 6-mm punch biopsy of the largest nodule was performed. Intraoperatively, there was no apparent cyst wall, but coiled, loose, stringlike, pink-yellow tissue was removed from the base of the wound before closing with sutures.

The primary histologic finding was cells within fibrous tissue containing delicate round-oval nuclei, inconspicuous nucleoli, and lightly eosinophilic cytoplasm with an indistinct border (Figure 2). Immunohistochemical studies for S100 protein were focal and limited to the cytoplasm of a subset of neoplastic cells (Figure 3). Tumor cells stained positive for epithelial membrane antigen (EMA) and were focally positive for progesterone receptor (Figure 4). Tumor cells were negative for CD31 and CD34. Based on the clinical and histologic findings, a diagnosis of metastatic meningioma of the scalp was made.

Magnetic resonance imaging and positron emission tomography of the head, neck, and chest demonstrated 3 residual subcutaneous nodules on the scalp and an indeterminate subcentimeter nodule in the right lung. The 0.4-cm nodule on the right posterior occipital scalp was removed without complication, and no radiation therapy was administered. The rest of the lesions were monitored. She remained under the close observation of a neurosurgeon and underwent repeat imaging of the scalp nodules and lungs, initially at 3 months and then routinely at the patient’s comfort. The patient currently denies any neurologic symptoms.

Comment

Meningiomas are derived from meningothelial cells found in the leptomeninges and in the choroid plexus of the ventricles of the brain.² They are common intracranial neoplasms that generally are associated with a benign course and present during the fourth to sixth decades of life. Meningiomas constitute 13% to 30% of intracranial neoplasms and usually are female predominant (3:1).^3,4 Rarely, malignant transformation can lead to local and distant metastasis to the lungs,^5,6 liver,⁷ and skeletal system.⁸ In cases of metastatic spread, there is an increased incidence in males versus females.^9-11

Risk Factors
Although many meningiomas are sporadic, numerous risk factors have been associated with the disease development. One study showed a link between exposure to ionizing radiation and subsequent development of meningioma.¹² Another study found a population link between a higher incidence of meningioma and nuclear exposure in Hiroshima, Japan, after the atomic bomb blast in 1980.¹³ There is an increased incidence of meningioma in patients exposed to radiography from frequent dental imaging, particularly when older machines with higher levels of radiation exposure are used.¹⁴Another study demonstrated a correlation between meningioma and hormonal factors (eg, estrogen for hormone therapy) and exacerbation of symptoms during pregnancy.¹⁵ There also is an increased incidence of meningioma in breast cancer patients.⁴ Genetic alterations also have been implicated in the development of meningioma. It was found that 50% of patients with a mutation in the neurofibromatosis 2 gene (which codes for the merlin protein) had associated meningiomas.^16,17 Scalp nodules in patients with neurofibromatosis type 2 increases suspicion of a scalp meningioma and necessitates biopsy.

Clinical Presentation
Cutaneous meningiomas typically present as firm, subcutaneous nodules. Scalp nodules ranging from alopecia^18,19 to hypertrichosis²⁰ have been reported. These neoplasms can be painless or painful, depending on mass effect and location.

Classification
The primary clinical classification system of metastatic meningioma was first described in 1974.²¹ Type 1 meningioma refers to congenital lesions that tend to cluster closer to the midline. Type 2 refers to ectopic soft-tissue lesions that extend to the skin from likely remnants of arachnoid cells. These lesions are more likely to be found around the eyes, ears, nose, and mouth. Type 3 meningiomas extend from intracranial tumors that secondarily involve the skin through proliferation through bone or anatomic defects. Type 3 is the result of direct extension and the location of the cutaneous presentation depends on the location of the intracranial lesion.^4,22,23

Pathology
Meningiomas exhibit a range of morphologic appearances on histopathology. In almost all meningiomas, tumor cells are concentrically wrapped in tight whorls with round-oval nuclei and delicate chromatin, central clearing, and pale pseudonuclear inclusions. Lamellate calcifications known as psammoma bodies are a common finding. Immunohistochemical studies show that most meningiomas are positive for EMA, vimentin, and progesterone receptor. S100 protein expression, if present, usually is focal.

Differential Diagnosis
Asymptomatic nodules on the scalp may present a diagnostic challenge to physicians. Most common scalp lesions tend to be cystic or lipomatous. In children, a broad differential diagnosis should be considered, including dermoid and epidermoid tumors, dermal sinus tumors, hemangiomas, metastasis of another tumor, aplasia cutis congenita, pilomatricoma, and lipoma. In adults, the differential should focus on epidermoid cysts, lipomas, metastasis of other tumors, osteomas, arteriovenous fistulae, and heterotopic brain tissue. Often, microscopic examination is necessary, along with additional immunohistochemical staining (eg, EMA, vimentin).

Treatment
Treatment options for meningioma include observation, surgical resection, radiotherapy, and systemic therapy, as well as a combination of these modalities. The choice of therapy depends on such variables as patient age; performance status; comorbidities; presence or absence of symptoms (including focal neurologic deficits); and tumor location, size, and grade. It is important to note that there is limited knowledge looking at the results of various treatment modalities, and no consensus approach has been established.

Conclusion

Our patient’s medical history was remarkable for an intracranial meningioma 11 years prior to the current presentation, and she was found to have biopsy-proven metastatic meningioma without recurrence of the initial tumor. Patients presenting with a scalp nodule warrant a thorough medical history and consideration beyond common cysts and lipomas.

Meningiomas generally present as slow-growing, expanding intracranial lesions and are the most common benign intracranial tumor in adults.¹ Rarely, meningioma exhibits malignant potential and presents as an extracranial soft-tissue mass through extension or as a primary extracranial cutaneous neoplasm. The differential diagnosis of scalp neoplasms must be broadened to include uncommon tumors such as meningioma. We present a rare case of a 68-year-old woman with scalp metastasis of meningioma 11 years after initial resection of the primary tumor.

Case Report

A 68-year-old woman presented for evaluation of an asymptomatic nodule on the left parietal scalp of 2 years’ duration. She denied any headaches, difficulty with balance, vision changes, or changes in mentation. Her medical history was remarkable for a benign meningioma removed from the right parietal scalp 11 years prior without radiation therapy, as well as type 2 diabetes mellitus and arthritis. The patient’s son died from a brain tumor, but the exact tumor type and age at the time of death were unknown. Her current medications included metformin, insulin glargine, aspirin, and a daily multivitamin. She denied any allergies or history of smoking.

Physical examination of the scalp revealed 4 fixed, nontender, flesh-colored nodules: 2 on the left parietal scalp measuring 3.0 cm and 0.8 cm, respectively (Figure 1A); a 0.4-cm nodule on the right posterior occipital scalp; and a 1.6-cm sausage-shaped nodule on the right temple (Figure 1B). No positive lymph nodes were appreciated, and no additional lesions were noted. No additional atypical lesions were noted on full cutaneous examination.

A diagnostic 6-mm punch biopsy of the largest nodule was performed. Intraoperatively, there was no apparent cyst wall, but coiled, loose, stringlike, pink-yellow tissue was removed from the base of the wound before closing with sutures.

The primary histologic finding was cells within fibrous tissue containing delicate round-oval nuclei, inconspicuous nucleoli, and lightly eosinophilic cytoplasm with an indistinct border (Figure 2). Immunohistochemical studies for S100 protein were focal and limited to the cytoplasm of a subset of neoplastic cells (Figure 3). Tumor cells stained positive for epithelial membrane antigen (EMA) and were focally positive for progesterone receptor (Figure 4). Tumor cells were negative for CD31 and CD34. Based on the clinical and histologic findings, a diagnosis of metastatic meningioma of the scalp was made.

Magnetic resonance imaging and positron emission tomography of the head, neck, and chest demonstrated 3 residual subcutaneous nodules on the scalp and an indeterminate subcentimeter nodule in the right lung. The 0.4-cm nodule on the right posterior occipital scalp was removed without complication, and no radiation therapy was administered. The rest of the lesions were monitored. She remained under the close observation of a neurosurgeon and underwent repeat imaging of the scalp nodules and lungs, initially at 3 months and then routinely at the patient’s comfort. The patient currently denies any neurologic symptoms.

Comment

Meningiomas are derived from meningothelial cells found in the leptomeninges and in the choroid plexus of the ventricles of the brain.² They are common intracranial neoplasms that generally are associated with a benign course and present during the fourth to sixth decades of life. Meningiomas constitute 13% to 30% of intracranial neoplasms and usually are female predominant (3:1).^3,4 Rarely, malignant transformation can lead to local and distant metastasis to the lungs,^5,6 liver,⁷ and skeletal system.⁸ In cases of metastatic spread, there is an increased incidence in males versus females.^9-11

Risk Factors
Although many meningiomas are sporadic, numerous risk factors have been associated with the disease development. One study showed a link between exposure to ionizing radiation and subsequent development of meningioma.¹² Another study found a population link between a higher incidence of meningioma and nuclear exposure in Hiroshima, Japan, after the atomic bomb blast in 1980.¹³ There is an increased incidence of meningioma in patients exposed to radiography from frequent dental imaging, particularly when older machines with higher levels of radiation exposure are used.¹⁴Another study demonstrated a correlation between meningioma and hormonal factors (eg, estrogen for hormone therapy) and exacerbation of symptoms during pregnancy.¹⁵ There also is an increased incidence of meningioma in breast cancer patients.⁴ Genetic alterations also have been implicated in the development of meningioma. It was found that 50% of patients with a mutation in the neurofibromatosis 2 gene (which codes for the merlin protein) had associated meningiomas.^16,17 Scalp nodules in patients with neurofibromatosis type 2 increases suspicion of a scalp meningioma and necessitates biopsy.

Clinical Presentation
Cutaneous meningiomas typically present as firm, subcutaneous nodules. Scalp nodules ranging from alopecia^18,19 to hypertrichosis²⁰ have been reported. These neoplasms can be painless or painful, depending on mass effect and location.

Classification
The primary clinical classification system of metastatic meningioma was first described in 1974.²¹ Type 1 meningioma refers to congenital lesions that tend to cluster closer to the midline. Type 2 refers to ectopic soft-tissue lesions that extend to the skin from likely remnants of arachnoid cells. These lesions are more likely to be found around the eyes, ears, nose, and mouth. Type 3 meningiomas extend from intracranial tumors that secondarily involve the skin through proliferation through bone or anatomic defects. Type 3 is the result of direct extension and the location of the cutaneous presentation depends on the location of the intracranial lesion.^4,22,23

Pathology
Meningiomas exhibit a range of morphologic appearances on histopathology. In almost all meningiomas, tumor cells are concentrically wrapped in tight whorls with round-oval nuclei and delicate chromatin, central clearing, and pale pseudonuclear inclusions. Lamellate calcifications known as psammoma bodies are a common finding. Immunohistochemical studies show that most meningiomas are positive for EMA, vimentin, and progesterone receptor. S100 protein expression, if present, usually is focal.

Differential Diagnosis
Asymptomatic nodules on the scalp may present a diagnostic challenge to physicians. Most common scalp lesions tend to be cystic or lipomatous. In children, a broad differential diagnosis should be considered, including dermoid and epidermoid tumors, dermal sinus tumors, hemangiomas, metastasis of another tumor, aplasia cutis congenita, pilomatricoma, and lipoma. In adults, the differential should focus on epidermoid cysts, lipomas, metastasis of other tumors, osteomas, arteriovenous fistulae, and heterotopic brain tissue. Often, microscopic examination is necessary, along with additional immunohistochemical staining (eg, EMA, vimentin).

Treatment
Treatment options for meningioma include observation, surgical resection, radiotherapy, and systemic therapy, as well as a combination of these modalities. The choice of therapy depends on such variables as patient age; performance status; comorbidities; presence or absence of symptoms (including focal neurologic deficits); and tumor location, size, and grade. It is important to note that there is limited knowledge looking at the results of various treatment modalities, and no consensus approach has been established.

Conclusion

Our patient’s medical history was remarkable for an intracranial meningioma 11 years prior to the current presentation, and she was found to have biopsy-proven metastatic meningioma without recurrence of the initial tumor. Patients presenting with a scalp nodule warrant a thorough medical history and consideration beyond common cysts and lipomas.

Meningiomas generally present as slow-growing, expanding intracranial lesions and are the most common benign intracranial tumor in adults.¹ Rarely, meningioma exhibits malignant potential and presents as an extracranial soft-tissue mass through extension or as a primary extracranial cutaneous neoplasm. The differential diagnosis of scalp neoplasms must be broadened to include uncommon tumors such as meningioma. We present a rare case of a 68-year-old woman with scalp metastasis of meningioma 11 years after initial resection of the primary tumor.

Case Report

A 68-year-old woman presented for evaluation of an asymptomatic nodule on the left parietal scalp of 2 years’ duration. She denied any headaches, difficulty with balance, vision changes, or changes in mentation. Her medical history was remarkable for a benign meningioma removed from the right parietal scalp 11 years prior without radiation therapy, as well as type 2 diabetes mellitus and arthritis. The patient’s son died from a brain tumor, but the exact tumor type and age at the time of death were unknown. Her current medications included metformin, insulin glargine, aspirin, and a daily multivitamin. She denied any allergies or history of smoking.

Physical examination of the scalp revealed 4 fixed, nontender, flesh-colored nodules: 2 on the left parietal scalp measuring 3.0 cm and 0.8 cm, respectively (Figure 1A); a 0.4-cm nodule on the right posterior occipital scalp; and a 1.6-cm sausage-shaped nodule on the right temple (Figure 1B). No positive lymph nodes were appreciated, and no additional lesions were noted. No additional atypical lesions were noted on full cutaneous examination.

A diagnostic 6-mm punch biopsy of the largest nodule was performed. Intraoperatively, there was no apparent cyst wall, but coiled, loose, stringlike, pink-yellow tissue was removed from the base of the wound before closing with sutures.

The primary histologic finding was cells within fibrous tissue containing delicate round-oval nuclei, inconspicuous nucleoli, and lightly eosinophilic cytoplasm with an indistinct border (Figure 2). Immunohistochemical studies for S100 protein were focal and limited to the cytoplasm of a subset of neoplastic cells (Figure 3). Tumor cells stained positive for epithelial membrane antigen (EMA) and were focally positive for progesterone receptor (Figure 4). Tumor cells were negative for CD31 and CD34. Based on the clinical and histologic findings, a diagnosis of metastatic meningioma of the scalp was made.

Magnetic resonance imaging and positron emission tomography of the head, neck, and chest demonstrated 3 residual subcutaneous nodules on the scalp and an indeterminate subcentimeter nodule in the right lung. The 0.4-cm nodule on the right posterior occipital scalp was removed without complication, and no radiation therapy was administered. The rest of the lesions were monitored. She remained under the close observation of a neurosurgeon and underwent repeat imaging of the scalp nodules and lungs, initially at 3 months and then routinely at the patient’s comfort. The patient currently denies any neurologic symptoms.

Comment

Meningiomas are derived from meningothelial cells found in the leptomeninges and in the choroid plexus of the ventricles of the brain.² They are common intracranial neoplasms that generally are associated with a benign course and present during the fourth to sixth decades of life. Meningiomas constitute 13% to 30% of intracranial neoplasms and usually are female predominant (3:1).^3,4 Rarely, malignant transformation can lead to local and distant metastasis to the lungs,^5,6 liver,⁷ and skeletal system.⁸ In cases of metastatic spread, there is an increased incidence in males versus females.^9-11

Risk Factors
Although many meningiomas are sporadic, numerous risk factors have been associated with the disease development. One study showed a link between exposure to ionizing radiation and subsequent development of meningioma.¹² Another study found a population link between a higher incidence of meningioma and nuclear exposure in Hiroshima, Japan, after the atomic bomb blast in 1980.¹³ There is an increased incidence of meningioma in patients exposed to radiography from frequent dental imaging, particularly when older machines with higher levels of radiation exposure are used.¹⁴Another study demonstrated a correlation between meningioma and hormonal factors (eg, estrogen for hormone therapy) and exacerbation of symptoms during pregnancy.¹⁵ There also is an increased incidence of meningioma in breast cancer patients.⁴ Genetic alterations also have been implicated in the development of meningioma. It was found that 50% of patients with a mutation in the neurofibromatosis 2 gene (which codes for the merlin protein) had associated meningiomas.^16,17 Scalp nodules in patients with neurofibromatosis type 2 increases suspicion of a scalp meningioma and necessitates biopsy.

Clinical Presentation
Cutaneous meningiomas typically present as firm, subcutaneous nodules. Scalp nodules ranging from alopecia^18,19 to hypertrichosis²⁰ have been reported. These neoplasms can be painless or painful, depending on mass effect and location.

Classification
The primary clinical classification system of metastatic meningioma was first described in 1974.²¹ Type 1 meningioma refers to congenital lesions that tend to cluster closer to the midline. Type 2 refers to ectopic soft-tissue lesions that extend to the skin from likely remnants of arachnoid cells. These lesions are more likely to be found around the eyes, ears, nose, and mouth. Type 3 meningiomas extend from intracranial tumors that secondarily involve the skin through proliferation through bone or anatomic defects. Type 3 is the result of direct extension and the location of the cutaneous presentation depends on the location of the intracranial lesion.^4,22,23

Pathology
Meningiomas exhibit a range of morphologic appearances on histopathology. In almost all meningiomas, tumor cells are concentrically wrapped in tight whorls with round-oval nuclei and delicate chromatin, central clearing, and pale pseudonuclear inclusions. Lamellate calcifications known as psammoma bodies are a common finding. Immunohistochemical studies show that most meningiomas are positive for EMA, vimentin, and progesterone receptor. S100 protein expression, if present, usually is focal.

Differential Diagnosis
Asymptomatic nodules on the scalp may present a diagnostic challenge to physicians. Most common scalp lesions tend to be cystic or lipomatous. In children, a broad differential diagnosis should be considered, including dermoid and epidermoid tumors, dermal sinus tumors, hemangiomas, metastasis of another tumor, aplasia cutis congenita, pilomatricoma, and lipoma. In adults, the differential should focus on epidermoid cysts, lipomas, metastasis of other tumors, osteomas, arteriovenous fistulae, and heterotopic brain tissue. Often, microscopic examination is necessary, along with additional immunohistochemical staining (eg, EMA, vimentin).

Treatment
Treatment options for meningioma include observation, surgical resection, radiotherapy, and systemic therapy, as well as a combination of these modalities. The choice of therapy depends on such variables as patient age; performance status; comorbidities; presence or absence of symptoms (including focal neurologic deficits); and tumor location, size, and grade. It is important to note that there is limited knowledge looking at the results of various treatment modalities, and no consensus approach has been established.

Conclusion

Our patient’s medical history was remarkable for an intracranial meningioma 11 years prior to the current presentation, and she was found to have biopsy-proven metastatic meningioma without recurrence of the initial tumor. Patients presenting with a scalp nodule warrant a thorough medical history and consideration beyond common cysts and lipomas.