The Clinical Picture

An otherwise healthy 46-year-old man presents with fever, chills, and rigors that began 1 day ago. He reports shortness of breath, nausea, neck pain, sore throat, and right-sided jaw pain, but no chest pain, headache, or photophobia.

His vital signs are within normal limits, except for a temperature of 38.5°C (101.3°F). His jugular venous pressure and heart sounds are normal, and no focal deficit or nuchal rigidity is elicited. Laboratory tests (hemography, biochemistry panel, and cardiac biomarkers) are normal. An enzyme immunoassay for influenza A and B is negative, as is a rapid antigen detection test for streptococcal infection.

Chest radiography and computed tomography of the head are normal. Standard 12-lead electrocardiography (ECG) shows 3-mm ST-segment elevation in leads V₁ and V₂ (Figure 1).

He receives sublingual nitroglycerin, aspirin, clopidogrel (Plavix) 600 mg, and morphine. Emergency cardiac catheterization shows no obstructive atherosclerotic coronary disease. ECG after catheterization shows “coved” ST-segment elevations in the right precordial leads V₁ and V₂ (Figure 2). At this point, his temperature is 39.3°C (102°F).

Q: What is the most likely diagnosis?

• Acute myocardial infarction
• Coronary vasospasm
• Brugada syndrome
• Acute pericarditis
• Acute meningitis

A: ST elevation commonly represents acute myocardial infarction, but it is associated with other conditions, including Prinzmetal angina, hyperkalemia, hypercalcemia, early repolarization, Brugada syndrome, and acute pericarditis.¹ These conditions should be considered before an invasive intervention. The ECG findings (ST elevation in the right precordial leads) in this patient were consistent with those of Brugada syndrome.

WHAT IS BRUGADA SYNDROME?

Brugada syndrome is an arrhythmogenic disease characterized by ST-segment elevation in the right precordial leads, right bundle branch block, and a high incidence of sudden cardiac death in younger people.² It accounts for 4% of all sudden deaths.³

Three different types of changes on ECG have been associated with Brugada syndrome. Type 1 is a coved ST-segment elevation of at least 2 mm, followed by a negative T wave, with little or no isoelectric separation, and present in more than one right precordial lead (from V₁ to V₃). Type 2 and type 3 patterns on ECG show the same 2-mm or greater J-point elevation, but a positive T wave gives the “saddleback” appearance to the ST-T portion.

Brugada syndrome is confirmed when a type 1 pattern is observed in conjunction with one of the following:

• Documented ventricular fibrillation
• Polymorphic ventricular tachycardia
• A family history of sudden cardiac death at 45 years of age or younger
• Type 1 pattern on ECG in family members
• Ventricular tachycardia that can be induced with programmed electrical stimulation
• Syncope
• Nocturnal agonal respiration.³

This patient had type 1 changes on ECG but none of the above findings.

Brugada syndrome is inherited as an autosomal dominant trait, and mutations in gene SCN5A account for 18% to 30% of cases.³ These mutations impair the function of the sodium channel current, leading to an unopposed outward shift of net transmembrane current at the end of phase 1 of the right ventricular epicardial action potential. Interestingly, changes on ECG that are associated with Brugada syndrome are often dynamic or concealed and are unmasked by sodium channel blockers, fever, vagotonic agents, adrenergic agonists or antagonists, and various electrolyte abnormalities.³

At temperatures above the physiologic range, the inward sodium current is reduced, either because of failure of expression of sodium channels or because of premature closing of the sodium channels in genetically susceptible individuals.⁴ Therefore, fever can unmask Brugada syndrome, as it did in our patient.

For patients with symptomatic Brugada syndrome, the only current treatment is implantation of a cardioverter-defibrillator.⁵ Patients without symptoms may benefit from an electrophysiologic study for risk stratification, and an implantable cardioverter-defibrillator is recommended for those in whom ventricular fibrillation can be induced.^3,5

CASE CONTINUED

The patient remained febrile after catheterization and received vancomycin (Vancocin) and ceftriaxone (Rocephin) empirically for presumed meningitis. Multiple peripheral blood cultures grew gram-positive cocci in pairs and chains, which were identified as Streptococcus pneumoniae. His fever abated soon after the antibiotic therapy was started.

Lumbar puncture was not done. Transesophageal echocardiography revealed no vegetations, with preserved ejection fraction. The patient has no family history of sudden death and no personal history of syncope or presyncope.

On hospital day 3, although his fever was gone, ECG still showed a Brugada pattern. He was discharged home on a 3-week regimen of intravenous penicillin, with plans for appropriate follow-up, and he was counseled that his family should be screened. An electrophysiologic study was not done, and he had no symptoms 1 year later.

As seen in this patient, Brugada syndrome is important to consider in the differential diagnosis in young patients who present with fever and ST elevations.

An otherwise healthy 46-year-old man presents with fever, chills, and rigors that began 1 day ago. He reports shortness of breath, nausea, neck pain, sore throat, and right-sided jaw pain, but no chest pain, headache, or photophobia.

His vital signs are within normal limits, except for a temperature of 38.5°C (101.3°F). His jugular venous pressure and heart sounds are normal, and no focal deficit or nuchal rigidity is elicited. Laboratory tests (hemography, biochemistry panel, and cardiac biomarkers) are normal. An enzyme immunoassay for influenza A and B is negative, as is a rapid antigen detection test for streptococcal infection.

Chest radiography and computed tomography of the head are normal. Standard 12-lead electrocardiography (ECG) shows 3-mm ST-segment elevation in leads V₁ and V₂ (Figure 1).

He receives sublingual nitroglycerin, aspirin, clopidogrel (Plavix) 600 mg, and morphine. Emergency cardiac catheterization shows no obstructive atherosclerotic coronary disease. ECG after catheterization shows “coved” ST-segment elevations in the right precordial leads V₁ and V₂ (Figure 2). At this point, his temperature is 39.3°C (102°F).

Q: What is the most likely diagnosis?

• Acute myocardial infarction
• Coronary vasospasm
• Brugada syndrome
• Acute pericarditis
• Acute meningitis

A: ST elevation commonly represents acute myocardial infarction, but it is associated with other conditions, including Prinzmetal angina, hyperkalemia, hypercalcemia, early repolarization, Brugada syndrome, and acute pericarditis.¹ These conditions should be considered before an invasive intervention. The ECG findings (ST elevation in the right precordial leads) in this patient were consistent with those of Brugada syndrome.

WHAT IS BRUGADA SYNDROME?

Brugada syndrome is an arrhythmogenic disease characterized by ST-segment elevation in the right precordial leads, right bundle branch block, and a high incidence of sudden cardiac death in younger people.² It accounts for 4% of all sudden deaths.³

Three different types of changes on ECG have been associated with Brugada syndrome. Type 1 is a coved ST-segment elevation of at least 2 mm, followed by a negative T wave, with little or no isoelectric separation, and present in more than one right precordial lead (from V₁ to V₃). Type 2 and type 3 patterns on ECG show the same 2-mm or greater J-point elevation, but a positive T wave gives the “saddleback” appearance to the ST-T portion.

Brugada syndrome is confirmed when a type 1 pattern is observed in conjunction with one of the following:

• Documented ventricular fibrillation
• Polymorphic ventricular tachycardia
• A family history of sudden cardiac death at 45 years of age or younger
• Type 1 pattern on ECG in family members
• Ventricular tachycardia that can be induced with programmed electrical stimulation
• Syncope
• Nocturnal agonal respiration.³

This patient had type 1 changes on ECG but none of the above findings.

Brugada syndrome is inherited as an autosomal dominant trait, and mutations in gene SCN5A account for 18% to 30% of cases.³ These mutations impair the function of the sodium channel current, leading to an unopposed outward shift of net transmembrane current at the end of phase 1 of the right ventricular epicardial action potential. Interestingly, changes on ECG that are associated with Brugada syndrome are often dynamic or concealed and are unmasked by sodium channel blockers, fever, vagotonic agents, adrenergic agonists or antagonists, and various electrolyte abnormalities.³

At temperatures above the physiologic range, the inward sodium current is reduced, either because of failure of expression of sodium channels or because of premature closing of the sodium channels in genetically susceptible individuals.⁴ Therefore, fever can unmask Brugada syndrome, as it did in our patient.

For patients with symptomatic Brugada syndrome, the only current treatment is implantation of a cardioverter-defibrillator.⁵ Patients without symptoms may benefit from an electrophysiologic study for risk stratification, and an implantable cardioverter-defibrillator is recommended for those in whom ventricular fibrillation can be induced.^3,5

CASE CONTINUED

The patient remained febrile after catheterization and received vancomycin (Vancocin) and ceftriaxone (Rocephin) empirically for presumed meningitis. Multiple peripheral blood cultures grew gram-positive cocci in pairs and chains, which were identified as Streptococcus pneumoniae. His fever abated soon after the antibiotic therapy was started.

Lumbar puncture was not done. Transesophageal echocardiography revealed no vegetations, with preserved ejection fraction. The patient has no family history of sudden death and no personal history of syncope or presyncope.

On hospital day 3, although his fever was gone, ECG still showed a Brugada pattern. He was discharged home on a 3-week regimen of intravenous penicillin, with plans for appropriate follow-up, and he was counseled that his family should be screened. An electrophysiologic study was not done, and he had no symptoms 1 year later.

As seen in this patient, Brugada syndrome is important to consider in the differential diagnosis in young patients who present with fever and ST elevations.

An otherwise healthy 46-year-old man presents with fever, chills, and rigors that began 1 day ago. He reports shortness of breath, nausea, neck pain, sore throat, and right-sided jaw pain, but no chest pain, headache, or photophobia.

His vital signs are within normal limits, except for a temperature of 38.5°C (101.3°F). His jugular venous pressure and heart sounds are normal, and no focal deficit or nuchal rigidity is elicited. Laboratory tests (hemography, biochemistry panel, and cardiac biomarkers) are normal. An enzyme immunoassay for influenza A and B is negative, as is a rapid antigen detection test for streptococcal infection.

Chest radiography and computed tomography of the head are normal. Standard 12-lead electrocardiography (ECG) shows 3-mm ST-segment elevation in leads V₁ and V₂ (Figure 1).

He receives sublingual nitroglycerin, aspirin, clopidogrel (Plavix) 600 mg, and morphine. Emergency cardiac catheterization shows no obstructive atherosclerotic coronary disease. ECG after catheterization shows “coved” ST-segment elevations in the right precordial leads V₁ and V₂ (Figure 2). At this point, his temperature is 39.3°C (102°F).

Q: What is the most likely diagnosis?

• Acute myocardial infarction
• Coronary vasospasm
• Brugada syndrome
• Acute pericarditis
• Acute meningitis

A: ST elevation commonly represents acute myocardial infarction, but it is associated with other conditions, including Prinzmetal angina, hyperkalemia, hypercalcemia, early repolarization, Brugada syndrome, and acute pericarditis.¹ These conditions should be considered before an invasive intervention. The ECG findings (ST elevation in the right precordial leads) in this patient were consistent with those of Brugada syndrome.

WHAT IS BRUGADA SYNDROME?

Brugada syndrome is an arrhythmogenic disease characterized by ST-segment elevation in the right precordial leads, right bundle branch block, and a high incidence of sudden cardiac death in younger people.² It accounts for 4% of all sudden deaths.³

Three different types of changes on ECG have been associated with Brugada syndrome. Type 1 is a coved ST-segment elevation of at least 2 mm, followed by a negative T wave, with little or no isoelectric separation, and present in more than one right precordial lead (from V₁ to V₃). Type 2 and type 3 patterns on ECG show the same 2-mm or greater J-point elevation, but a positive T wave gives the “saddleback” appearance to the ST-T portion.

Brugada syndrome is confirmed when a type 1 pattern is observed in conjunction with one of the following:

• Documented ventricular fibrillation
• Polymorphic ventricular tachycardia
• A family history of sudden cardiac death at 45 years of age or younger
• Type 1 pattern on ECG in family members
• Ventricular tachycardia that can be induced with programmed electrical stimulation
• Syncope
• Nocturnal agonal respiration.³

This patient had type 1 changes on ECG but none of the above findings.

Brugada syndrome is inherited as an autosomal dominant trait, and mutations in gene SCN5A account for 18% to 30% of cases.³ These mutations impair the function of the sodium channel current, leading to an unopposed outward shift of net transmembrane current at the end of phase 1 of the right ventricular epicardial action potential. Interestingly, changes on ECG that are associated with Brugada syndrome are often dynamic or concealed and are unmasked by sodium channel blockers, fever, vagotonic agents, adrenergic agonists or antagonists, and various electrolyte abnormalities.³

At temperatures above the physiologic range, the inward sodium current is reduced, either because of failure of expression of sodium channels or because of premature closing of the sodium channels in genetically susceptible individuals.⁴ Therefore, fever can unmask Brugada syndrome, as it did in our patient.

For patients with symptomatic Brugada syndrome, the only current treatment is implantation of a cardioverter-defibrillator.⁵ Patients without symptoms may benefit from an electrophysiologic study for risk stratification, and an implantable cardioverter-defibrillator is recommended for those in whom ventricular fibrillation can be induced.^3,5

CASE CONTINUED

The patient remained febrile after catheterization and received vancomycin (Vancocin) and ceftriaxone (Rocephin) empirically for presumed meningitis. Multiple peripheral blood cultures grew gram-positive cocci in pairs and chains, which were identified as Streptococcus pneumoniae. His fever abated soon after the antibiotic therapy was started.

Lumbar puncture was not done. Transesophageal echocardiography revealed no vegetations, with preserved ejection fraction. The patient has no family history of sudden death and no personal history of syncope or presyncope.

On hospital day 3, although his fever was gone, ECG still showed a Brugada pattern. He was discharged home on a 3-week regimen of intravenous penicillin, with plans for appropriate follow-up, and he was counseled that his family should be screened. An electrophysiologic study was not done, and he had no symptoms 1 year later.

As seen in this patient, Brugada syndrome is important to consider in the differential diagnosis in young patients who present with fever and ST elevations.

A 72-year-old woman presents with a 3-week history of diarrhea, pyrexia, and a florid but asymptomatic skin eruption consisting of infiltrated erythematous papules and nodules that coalesce into large plaques (Figures 1 and 2). These initially afflicted her thorax before spreading to her back, arms, and legs. Pancytopenia is noted on her admission hemogram.

She is a smoker but has been in good health and is on no regular medications.

Q: What is the most likely diagnosis?

• Leukemia cutis
• Drug reaction
• Sweet syndrome
• Erythema multiforme
• Urticaria

A: The correct answer is leukemia cutis, defined as a cutaneous infiltration by neoplastic leukocytes.¹ When the leukocytes are primarily granulocytic precursors, the terms myeloid sarcoma, granulocytic sarcoma, chloroma, and primary extramedullary leukemia have been used.² The term monoblastic sarcoma has been used when the cutaneous infiltrate is composed of neoplastic monocytic precursors.²

Leukemia cutis most commonly manifests as erythematous papules and nodules, single or multiple, of varying sizes, and afflicting one or more body sites; it typically is asymptomatic.³ It occurs in 10% to 15% of patients with acute myeloid leukemia⁴ and is itself a poor prognostic sign.⁵ The cutaneous changes may pre-date the hematologic manifestations and may even herald a relapse.⁶

In patients presenting with extramedullary leukemia and no bone marrow or blood involvement, the importance of preemptive chemotherapy for acute myelogenous leukemia has recently been emphasized.⁷

CASE CONTINUED

The patient undergoes further testing with bone marrow aspiration and trephination, which are diagnostic of acute myeloid leukemia with myelodysplastic changes: the studies reveal a clear excess of myeloblasts (accounting for 40% to 50% of nucleated cells) and clearly dysplastic erythropoiesis and myelopoiesis. Bone marrow cytogenetic analysis reveals a complex abnormal female karyotype with multiple numerical and structural abnormalities, in particular deletion of the long arm of chromosome 5, suggestive of a poor prognosis.

Skin biopsy reveals a normal epidermis but dermal perivascular involvement with a reactive T-lymphocyte infiltrate associated with immature myeloid elements, characterized by positive staining to myeloperoxidase, in keeping with leukemia cutis. It should be noted that histopathologic confirmation of leukemia cutis can be challenging, as the condition can adopt a variety of patterns, and clinicopathologic correlation is often warranted.

The patient is treated with a cycle of cytarabine-based chemotherapy, and her skin eruption transiently improves. However, her clinical condition subsequently deteriorates; she has a relapse of leukemia, with the rash returning more florid and angry-looking than previously. She is subsequently managed palliatively and passes away 3 weeks later.

THE OTHER DIAGNOSTIC CHOICES

Sweet syndrome or acute febrile neutrophilic dermatosis is often seen in association with hematologic malignancies, but the lesions are typically tender, and histopathology reveals an intense dermal neutrophilic infiltrate.⁶

Erythema multiforme is associated with malignancy, but its characteristic concentric “target” lesions are typically acral and symmetrical in their distribution; their histopathology is inflammatory.⁸

The patient had not been on any regular medications and her rash could not have been medication-induced.

Urticaria presents with pruritic evanescent wheals, which rarely last more than 12 hours.⁹ Our patient had a fixed and entirely asymptomatic rash, which in addition did not have the histopathologic features of urticaria—namely, dermal edema involved with an infiltrate made of lymphocytes and eosinophils.⁹

A 72-year-old woman presents with a 3-week history of diarrhea, pyrexia, and a florid but asymptomatic skin eruption consisting of infiltrated erythematous papules and nodules that coalesce into large plaques (Figures 1 and 2). These initially afflicted her thorax before spreading to her back, arms, and legs. Pancytopenia is noted on her admission hemogram.

She is a smoker but has been in good health and is on no regular medications.

Q: What is the most likely diagnosis?

• Leukemia cutis
• Drug reaction
• Sweet syndrome
• Erythema multiforme
• Urticaria

A: The correct answer is leukemia cutis, defined as a cutaneous infiltration by neoplastic leukocytes.¹ When the leukocytes are primarily granulocytic precursors, the terms myeloid sarcoma, granulocytic sarcoma, chloroma, and primary extramedullary leukemia have been used.² The term monoblastic sarcoma has been used when the cutaneous infiltrate is composed of neoplastic monocytic precursors.²

Leukemia cutis most commonly manifests as erythematous papules and nodules, single or multiple, of varying sizes, and afflicting one or more body sites; it typically is asymptomatic.³ It occurs in 10% to 15% of patients with acute myeloid leukemia⁴ and is itself a poor prognostic sign.⁵ The cutaneous changes may pre-date the hematologic manifestations and may even herald a relapse.⁶

In patients presenting with extramedullary leukemia and no bone marrow or blood involvement, the importance of preemptive chemotherapy for acute myelogenous leukemia has recently been emphasized.⁷

CASE CONTINUED

The patient undergoes further testing with bone marrow aspiration and trephination, which are diagnostic of acute myeloid leukemia with myelodysplastic changes: the studies reveal a clear excess of myeloblasts (accounting for 40% to 50% of nucleated cells) and clearly dysplastic erythropoiesis and myelopoiesis. Bone marrow cytogenetic analysis reveals a complex abnormal female karyotype with multiple numerical and structural abnormalities, in particular deletion of the long arm of chromosome 5, suggestive of a poor prognosis.

Skin biopsy reveals a normal epidermis but dermal perivascular involvement with a reactive T-lymphocyte infiltrate associated with immature myeloid elements, characterized by positive staining to myeloperoxidase, in keeping with leukemia cutis. It should be noted that histopathologic confirmation of leukemia cutis can be challenging, as the condition can adopt a variety of patterns, and clinicopathologic correlation is often warranted.

The patient is treated with a cycle of cytarabine-based chemotherapy, and her skin eruption transiently improves. However, her clinical condition subsequently deteriorates; she has a relapse of leukemia, with the rash returning more florid and angry-looking than previously. She is subsequently managed palliatively and passes away 3 weeks later.

THE OTHER DIAGNOSTIC CHOICES

Sweet syndrome or acute febrile neutrophilic dermatosis is often seen in association with hematologic malignancies, but the lesions are typically tender, and histopathology reveals an intense dermal neutrophilic infiltrate.⁶

Erythema multiforme is associated with malignancy, but its characteristic concentric “target” lesions are typically acral and symmetrical in their distribution; their histopathology is inflammatory.⁸

The patient had not been on any regular medications and her rash could not have been medication-induced.

Urticaria presents with pruritic evanescent wheals, which rarely last more than 12 hours.⁹ Our patient had a fixed and entirely asymptomatic rash, which in addition did not have the histopathologic features of urticaria—namely, dermal edema involved with an infiltrate made of lymphocytes and eosinophils.⁹

A 72-year-old woman presents with a 3-week history of diarrhea, pyrexia, and a florid but asymptomatic skin eruption consisting of infiltrated erythematous papules and nodules that coalesce into large plaques (Figures 1 and 2). These initially afflicted her thorax before spreading to her back, arms, and legs. Pancytopenia is noted on her admission hemogram.

She is a smoker but has been in good health and is on no regular medications.

Q: What is the most likely diagnosis?

• Leukemia cutis
• Drug reaction
• Sweet syndrome
• Erythema multiforme
• Urticaria

A: The correct answer is leukemia cutis, defined as a cutaneous infiltration by neoplastic leukocytes.¹ When the leukocytes are primarily granulocytic precursors, the terms myeloid sarcoma, granulocytic sarcoma, chloroma, and primary extramedullary leukemia have been used.² The term monoblastic sarcoma has been used when the cutaneous infiltrate is composed of neoplastic monocytic precursors.²

Leukemia cutis most commonly manifests as erythematous papules and nodules, single or multiple, of varying sizes, and afflicting one or more body sites; it typically is asymptomatic.³ It occurs in 10% to 15% of patients with acute myeloid leukemia⁴ and is itself a poor prognostic sign.⁵ The cutaneous changes may pre-date the hematologic manifestations and may even herald a relapse.⁶

In patients presenting with extramedullary leukemia and no bone marrow or blood involvement, the importance of preemptive chemotherapy for acute myelogenous leukemia has recently been emphasized.⁷

CASE CONTINUED

The patient undergoes further testing with bone marrow aspiration and trephination, which are diagnostic of acute myeloid leukemia with myelodysplastic changes: the studies reveal a clear excess of myeloblasts (accounting for 40% to 50% of nucleated cells) and clearly dysplastic erythropoiesis and myelopoiesis. Bone marrow cytogenetic analysis reveals a complex abnormal female karyotype with multiple numerical and structural abnormalities, in particular deletion of the long arm of chromosome 5, suggestive of a poor prognosis.

Skin biopsy reveals a normal epidermis but dermal perivascular involvement with a reactive T-lymphocyte infiltrate associated with immature myeloid elements, characterized by positive staining to myeloperoxidase, in keeping with leukemia cutis. It should be noted that histopathologic confirmation of leukemia cutis can be challenging, as the condition can adopt a variety of patterns, and clinicopathologic correlation is often warranted.

The patient is treated with a cycle of cytarabine-based chemotherapy, and her skin eruption transiently improves. However, her clinical condition subsequently deteriorates; she has a relapse of leukemia, with the rash returning more florid and angry-looking than previously. She is subsequently managed palliatively and passes away 3 weeks later.

THE OTHER DIAGNOSTIC CHOICES

Sweet syndrome or acute febrile neutrophilic dermatosis is often seen in association with hematologic malignancies, but the lesions are typically tender, and histopathology reveals an intense dermal neutrophilic infiltrate.⁶

Erythema multiforme is associated with malignancy, but its characteristic concentric “target” lesions are typically acral and symmetrical in their distribution; their histopathology is inflammatory.⁸

The patient had not been on any regular medications and her rash could not have been medication-induced.

Urticaria presents with pruritic evanescent wheals, which rarely last more than 12 hours.⁹ Our patient had a fixed and entirely asymptomatic rash, which in addition did not have the histopathologic features of urticaria—namely, dermal edema involved with an infiltrate made of lymphocytes and eosinophils.⁹

A 40-year-old woman presents to the clinic with multiple excoriated lesions over her chest, arms, abdomen, and upper back (Figure 1, Figure 2). The lesions have been present for many years; a few of them show signs of recent bleeding.

She denies any history of itching, insect bites, exposure to new medications or jewelry, allergies, recent change in medications, travel, or intravenous drug abuse.

A review of systems finds no liver, kidney, or heart disease. On examination, we find multiple scattered, weeping, crusted ulcerations, hyperpigmented macules and papules, and atrophic scars in different stages of healing on the upper chest, arms, abdomen, and upper back.

Q: Which is the most likely diagnosis?

• Allergic contact dermatitis
• Xerosis
• Dermatotillomania
• Folliculitis
• Infestation (scabies)

A: Dermatotillomania, ie, pathologic skin picking, is the correct diagnosis. On further questioning, the patient reveals that the wounds have been self-inflicted over many years, starting in her adolescence. The wounds are located only in areas she can reach. She admits that social and emotional stressors had made the condition significantly worse and that lately she had lost control of her skin-picking. She denies nail-biting, trichotillomania, or obsessive-compulsive behavior.

As for the other possible diagnoses:

Allergic contact dermatitis occurs when contact with a particular substance elicits a hypersensitivity reaction. This reaction is of the delayed type (type IV). The affected individual can develop skin erythema and swelling with vesicles that are intensely pruritic at the contact site. The erythema may become evident hours after exposure, or not until weeks later, which can make the diagnosis difficult at times.

Our patient’s lesions were not pruritic, and she denied recent exposure to allergens.

Xerosis. Xerotic (dry) skin is usually rough, with fine scales and fissures. Xerosis can affect people of all ages and is often more intense during the winter. It affects mainly the arms, legs, and hands. Patients note pruritus, which can be treated with liberal use of emollients and tepid water baths.

Our patient’s lesions were scarred, hyperpigmented, and nonpruritic.

Folliculitis is a superficial infection of the hair follicle that presents as an erythematous pustule on the extremities, buttocks, or scalp. The pustule can be tender to palpation and can progress to an abscess that requires incision and drainage and intravenous antibiotics. A moist environment and poor hygiene are predisposing factors. Staphylococcus aureus is the culprit in most cases.

Our patient’s lesions were on the chest and upper back, where hair follicles were sparse or absent, and there was no erythema or tenderness.

Scabies is a skin infestation with Sarcoptes scabiei mites, which burrow in the skin and cause intense pruritus, especially at night. Scabies usually affects the sides and webs of the fingers and skin folds. Sexual contact is a common way of transmission; however, transmission can also occur by sharing beds and towels.

Patients with dermatotillomania lack intense pruritus, and skin-picking occurs during the day, while the patient is awake.

SELF-INFLICTED WOUNDS

Pathologic skin-picking, neurotic excoriation, excoriated acne, or dermatotillomania results from scratching, picking, gouging, or squeezing of one’s skin via teeth, fingernails, tweezers, or other objects.^1–3 Lesions are usually found on skin that the patient can easily reach, such as the face, chest, upper and lower extremities, and upper back.⁴

The prevalence of pathologic skin-picking is estimated at 2% in dermatology patients.⁵ The overall prevalence of psychiatric disorders in all dermatology outpatients is estimated at 30% to 40%. Women outnumber men with this disorder.⁶

Dermatotillomania is thought to be on the spectrum of obsessive-compulsive disorder, in which patients exhibit impulses and compulsions.⁵ It starts in childhood or early adulthood, with an average lifetime duration of 21 years.⁷ It is usually associated with anxiety, depression, obsessive-compulsive traits, eating disorders, body dysmorphic disorders, or hypochondriasis. Psychosocial stress is the main trigger. Patients report feelings of tension and stress before picking and relief while picking; there is no suicidal ideation.⁸

Treatments are both pharmacologic and behavioral.⁹ Cognitive behavioral therapy and habit reversal therapy have each been successful when used alone.⁸ In addition, several case reports¹⁰ and double-blind studies^11,12 have shown that treatment with a selective serotonin-reuptake inhibitor (SSRI) can reduce pathologic skin-picking.^13,14 However, SSRIs have also been reported to induce or aggravate this behavior in patients with underlying mild skin-picking and a family history of skin-picking.¹⁵ Thus, it is pertinent to extract a detailed history from the patient before prescribing an SSRI.

We referred our patient for behavioral therapy and prescribed fluoxetine (Prozac) 20 mg daily. She showed improvement in symptoms in 4 weeks and has since stopped skin-picking completely.

A 40-year-old woman presents to the clinic with multiple excoriated lesions over her chest, arms, abdomen, and upper back (Figure 1, Figure 2). The lesions have been present for many years; a few of them show signs of recent bleeding.

She denies any history of itching, insect bites, exposure to new medications or jewelry, allergies, recent change in medications, travel, or intravenous drug abuse.

A review of systems finds no liver, kidney, or heart disease. On examination, we find multiple scattered, weeping, crusted ulcerations, hyperpigmented macules and papules, and atrophic scars in different stages of healing on the upper chest, arms, abdomen, and upper back.

Q: Which is the most likely diagnosis?

• Allergic contact dermatitis
• Xerosis
• Dermatotillomania
• Folliculitis
• Infestation (scabies)

A: Dermatotillomania, ie, pathologic skin picking, is the correct diagnosis. On further questioning, the patient reveals that the wounds have been self-inflicted over many years, starting in her adolescence. The wounds are located only in areas she can reach. She admits that social and emotional stressors had made the condition significantly worse and that lately she had lost control of her skin-picking. She denies nail-biting, trichotillomania, or obsessive-compulsive behavior.

As for the other possible diagnoses:

Allergic contact dermatitis occurs when contact with a particular substance elicits a hypersensitivity reaction. This reaction is of the delayed type (type IV). The affected individual can develop skin erythema and swelling with vesicles that are intensely pruritic at the contact site. The erythema may become evident hours after exposure, or not until weeks later, which can make the diagnosis difficult at times.

Our patient’s lesions were not pruritic, and she denied recent exposure to allergens.

Xerosis. Xerotic (dry) skin is usually rough, with fine scales and fissures. Xerosis can affect people of all ages and is often more intense during the winter. It affects mainly the arms, legs, and hands. Patients note pruritus, which can be treated with liberal use of emollients and tepid water baths.

Our patient’s lesions were scarred, hyperpigmented, and nonpruritic.

Folliculitis is a superficial infection of the hair follicle that presents as an erythematous pustule on the extremities, buttocks, or scalp. The pustule can be tender to palpation and can progress to an abscess that requires incision and drainage and intravenous antibiotics. A moist environment and poor hygiene are predisposing factors. Staphylococcus aureus is the culprit in most cases.

Our patient’s lesions were on the chest and upper back, where hair follicles were sparse or absent, and there was no erythema or tenderness.

Scabies is a skin infestation with Sarcoptes scabiei mites, which burrow in the skin and cause intense pruritus, especially at night. Scabies usually affects the sides and webs of the fingers and skin folds. Sexual contact is a common way of transmission; however, transmission can also occur by sharing beds and towels.

Patients with dermatotillomania lack intense pruritus, and skin-picking occurs during the day, while the patient is awake.

SELF-INFLICTED WOUNDS

Pathologic skin-picking, neurotic excoriation, excoriated acne, or dermatotillomania results from scratching, picking, gouging, or squeezing of one’s skin via teeth, fingernails, tweezers, or other objects.^1–3 Lesions are usually found on skin that the patient can easily reach, such as the face, chest, upper and lower extremities, and upper back.⁴

The prevalence of pathologic skin-picking is estimated at 2% in dermatology patients.⁵ The overall prevalence of psychiatric disorders in all dermatology outpatients is estimated at 30% to 40%. Women outnumber men with this disorder.⁶

Dermatotillomania is thought to be on the spectrum of obsessive-compulsive disorder, in which patients exhibit impulses and compulsions.⁵ It starts in childhood or early adulthood, with an average lifetime duration of 21 years.⁷ It is usually associated with anxiety, depression, obsessive-compulsive traits, eating disorders, body dysmorphic disorders, or hypochondriasis. Psychosocial stress is the main trigger. Patients report feelings of tension and stress before picking and relief while picking; there is no suicidal ideation.⁸

Treatments are both pharmacologic and behavioral.⁹ Cognitive behavioral therapy and habit reversal therapy have each been successful when used alone.⁸ In addition, several case reports¹⁰ and double-blind studies^11,12 have shown that treatment with a selective serotonin-reuptake inhibitor (SSRI) can reduce pathologic skin-picking.^13,14 However, SSRIs have also been reported to induce or aggravate this behavior in patients with underlying mild skin-picking and a family history of skin-picking.¹⁵ Thus, it is pertinent to extract a detailed history from the patient before prescribing an SSRI.

We referred our patient for behavioral therapy and prescribed fluoxetine (Prozac) 20 mg daily. She showed improvement in symptoms in 4 weeks and has since stopped skin-picking completely.

A 40-year-old woman presents to the clinic with multiple excoriated lesions over her chest, arms, abdomen, and upper back (Figure 1, Figure 2). The lesions have been present for many years; a few of them show signs of recent bleeding.

She denies any history of itching, insect bites, exposure to new medications or jewelry, allergies, recent change in medications, travel, or intravenous drug abuse.

A review of systems finds no liver, kidney, or heart disease. On examination, we find multiple scattered, weeping, crusted ulcerations, hyperpigmented macules and papules, and atrophic scars in different stages of healing on the upper chest, arms, abdomen, and upper back.

Q: Which is the most likely diagnosis?

• Allergic contact dermatitis
• Xerosis
• Dermatotillomania
• Folliculitis
• Infestation (scabies)

A: Dermatotillomania, ie, pathologic skin picking, is the correct diagnosis. On further questioning, the patient reveals that the wounds have been self-inflicted over many years, starting in her adolescence. The wounds are located only in areas she can reach. She admits that social and emotional stressors had made the condition significantly worse and that lately she had lost control of her skin-picking. She denies nail-biting, trichotillomania, or obsessive-compulsive behavior.

As for the other possible diagnoses:

Allergic contact dermatitis occurs when contact with a particular substance elicits a hypersensitivity reaction. This reaction is of the delayed type (type IV). The affected individual can develop skin erythema and swelling with vesicles that are intensely pruritic at the contact site. The erythema may become evident hours after exposure, or not until weeks later, which can make the diagnosis difficult at times.

Our patient’s lesions were not pruritic, and she denied recent exposure to allergens.

Xerosis. Xerotic (dry) skin is usually rough, with fine scales and fissures. Xerosis can affect people of all ages and is often more intense during the winter. It affects mainly the arms, legs, and hands. Patients note pruritus, which can be treated with liberal use of emollients and tepid water baths.

Our patient’s lesions were scarred, hyperpigmented, and nonpruritic.

Folliculitis is a superficial infection of the hair follicle that presents as an erythematous pustule on the extremities, buttocks, or scalp. The pustule can be tender to palpation and can progress to an abscess that requires incision and drainage and intravenous antibiotics. A moist environment and poor hygiene are predisposing factors. Staphylococcus aureus is the culprit in most cases.

Our patient’s lesions were on the chest and upper back, where hair follicles were sparse or absent, and there was no erythema or tenderness.

Scabies is a skin infestation with Sarcoptes scabiei mites, which burrow in the skin and cause intense pruritus, especially at night. Scabies usually affects the sides and webs of the fingers and skin folds. Sexual contact is a common way of transmission; however, transmission can also occur by sharing beds and towels.

Patients with dermatotillomania lack intense pruritus, and skin-picking occurs during the day, while the patient is awake.

SELF-INFLICTED WOUNDS

Pathologic skin-picking, neurotic excoriation, excoriated acne, or dermatotillomania results from scratching, picking, gouging, or squeezing of one’s skin via teeth, fingernails, tweezers, or other objects.^1–3 Lesions are usually found on skin that the patient can easily reach, such as the face, chest, upper and lower extremities, and upper back.⁴

The prevalence of pathologic skin-picking is estimated at 2% in dermatology patients.⁵ The overall prevalence of psychiatric disorders in all dermatology outpatients is estimated at 30% to 40%. Women outnumber men with this disorder.⁶

Dermatotillomania is thought to be on the spectrum of obsessive-compulsive disorder, in which patients exhibit impulses and compulsions.⁵ It starts in childhood or early adulthood, with an average lifetime duration of 21 years.⁷ It is usually associated with anxiety, depression, obsessive-compulsive traits, eating disorders, body dysmorphic disorders, or hypochondriasis. Psychosocial stress is the main trigger. Patients report feelings of tension and stress before picking and relief while picking; there is no suicidal ideation.⁸

Treatments are both pharmacologic and behavioral.⁹ Cognitive behavioral therapy and habit reversal therapy have each been successful when used alone.⁸ In addition, several case reports¹⁰ and double-blind studies^11,12 have shown that treatment with a selective serotonin-reuptake inhibitor (SSRI) can reduce pathologic skin-picking.^13,14 However, SSRIs have also been reported to induce or aggravate this behavior in patients with underlying mild skin-picking and a family history of skin-picking.¹⁵ Thus, it is pertinent to extract a detailed history from the patient before prescribing an SSRI.

We referred our patient for behavioral therapy and prescribed fluoxetine (Prozac) 20 mg daily. She showed improvement in symptoms in 4 weeks and has since stopped skin-picking completely.

A 38-year-old woman presents with recurrent asymptomatic lesions on the palms and soles and on the sides of both feet. The lesions have been developing for 2 months, unaccompanied by fever or other systemic symptoms.

She has a history of episodes of arthritis of the anterior chest wall, which she has treated with nonsteroidal anti-inflammatory drugs (NSAIDs).

Physical examination reveals pustules on the palms and soles (Figure 1 and Figure 2). No lesions are noted on the oral and genital mucosae.

Laboratory tests of C-reactive protein, erythrocyte sedimentation rate, viral serologies, and antinuclear antibodies are normal. A pustule culture is negative, and a cutaneous biopsy shows parakeratosis and elongation of rete ridges, neutrophils migrating from papillary capillaries to the epidermis, and spongiform Kogoj pustule.

Thoracic radiography shows increased density in the sternoclavicular joints, and a three-phase technetium-99m-labeled bone scan and gallium scan reveal radionuclide uptake in the sternoclavicular and manubriosternal joints (Figure 3). Computed tomography of the thorax and abdomen reveal no abnormalities.

Q: Which is the most likely diagnosis?

• Pustular psoriasis
• Impetigo contagiosa
• Syndrome of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO)
• Dyshidrotic eczema
• Acute exanthematous pustulosis (drug eruption)

A: SAPHO syndrome is the most likely diagnosis. The presence of pustules and aseptic osteitis of the anterior chest wall is compatible with SAPHO syndrome. Treatment with topical clobetasol propionate (Temovate) for pustules and NSAIDs for osteitis brought a good response.

Pustular psoriasis is an uncommon type of psoriasis characterized by erythema and pustules involving the flexural and anogenital areas. Cutaneous lesions of psoriasis vulgaris may be present before an acute pustular episode. Withdrawal of systemic corticosteroids in a patient with psoriasis has been reported as a precipitating factor.

Impetigo contagiosa is a superficial cutaneous infection characterized by an erythematous macule that evolves into a vesicle or pustule. These lesions are more common in children. Culture of the fluid usually reveals Staphylococcus aureus or S pyogenes.

Dyshidrotic eczema is a pruritic vesicular eruption of unknown cause on the palm and soles (bilateral and symmetric). The typical histologic findings are spongiotic and intraepidermal vesicles.

Acute exanthematous pustulosis is a drug-induced reaction characterized by confluent erythema, blisters, and pustules, mucous membrane erosions with fever, and lymphadenopathy. Cultures of the pustules are negative, and biopsy can help confirm the diagnosis of drug eruption.

SAPHO SYNDROME

SAPHO syndrome is a rare condition of unknown pathogenesis originally described by Chamot et al¹ in 1987. The onset is usually in young adulthood, and is similar in men and women. It is characterized by synovitis, acne, pustulosis, hyperostosis, and osteitis. Of paramount importance is the finding of a non-infectious inflammatory osteitis in a patient with skin lesions.

Clinical findings: Pustules plus rheumatic pain

SAPHO syndrome must be suspected when a patient is affected by a pustular skin disease associated with rheumatic pain. If examination shows that the pain is caused by a sterile inflammation of bone or joints, the diagnosis tends to be confirmed.²

Osteoarticular involvement tends to be limited to the anterior chest wall. It may include aseptic osteitis, hyperostosis, and symmetrical arthritis. Peripheral and axial osteitis is one of the main characteristics of the syndrome and is found in around 90% of cases.

Cutaneous manifestations are present in two-thirds of patients and consist chiefly of severe acne (acne fulminans, acne conglobata, and hidradenitis suppurativa), pustular psoriasis, and palmoplantar pustulosis. Neutrophilic dermatoses associated with this syndrome include Sweet syndrome and pyoderma gangrenosum. Acne lesions are usually seen in men, whereas palmoplantar pustulosis is seen in women,³ often accompanying osteoarticular manifestations.

Radiologic findings in the spine are spondylodiskitis, osteosclerosis, sacroiliac joint involvement, and paravertebral ossification. In anterior chest wall hyperostosis, common findings are bone hypertrophy and sclerosis with a soft-tissue component. Laboratory test results are uncharacteristic, with variable signs of inflammation, and the C-reactive protein and sedimentation rate are usually elevated in the absence of leukocytosis.

Pathogenesis remains elusive

The pathogenesis of this syndrome remains elusive. Since SAPHO syndrome usually involves the axial skeleton, some investigators have suggested a possible link between the SAPHO syndrome and the seronegative spondyloarthopathies.³ It has also been related to an infection by Propionibacterium acnes and Corynebacterium species,⁴ which have been isolated in cultures of bone and skin lesions. However, the fact that these bacteria are contaminant agents makes their involvement in the pathogenesis of this syndrome unlikely. More recently, high concentrations of tumor necrosis factor alpha in bone specimens of patients with SAPHO syndrome have been reported, thus highlighting the central role of this cytokine in maintaining inflammation.

Treatment is to relieve symptoms

Since understanding of the pathogenesis of SAPHO syndrome is limited, a wide range of therapies has been used,⁵ mostly to relieve symptoms. These include NSAIDs; steroids; antibiotics; bisphosphonates such as pamidronate (Aredia) and zoledronic acid (Reclast); and immunosuppressors and immunomodulators such as methotrexate (Trexall), leflunomide (Arava), sulfasalazine (Azulfidine), cyclosporine (Sandimmune). The results with these therapies have been quite varied. Good response has been reported with tumor necrosis factor alpha blockers—infliximab (Remicade), etanercept (Enbrel), and adalimumab (Humira).⁶

A 38-year-old woman presents with recurrent asymptomatic lesions on the palms and soles and on the sides of both feet. The lesions have been developing for 2 months, unaccompanied by fever or other systemic symptoms.

She has a history of episodes of arthritis of the anterior chest wall, which she has treated with nonsteroidal anti-inflammatory drugs (NSAIDs).

Physical examination reveals pustules on the palms and soles (Figure 1 and Figure 2). No lesions are noted on the oral and genital mucosae.

Laboratory tests of C-reactive protein, erythrocyte sedimentation rate, viral serologies, and antinuclear antibodies are normal. A pustule culture is negative, and a cutaneous biopsy shows parakeratosis and elongation of rete ridges, neutrophils migrating from papillary capillaries to the epidermis, and spongiform Kogoj pustule.

Thoracic radiography shows increased density in the sternoclavicular joints, and a three-phase technetium-99m-labeled bone scan and gallium scan reveal radionuclide uptake in the sternoclavicular and manubriosternal joints (Figure 3). Computed tomography of the thorax and abdomen reveal no abnormalities.

Q: Which is the most likely diagnosis?

• Pustular psoriasis
• Impetigo contagiosa
• Syndrome of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO)
• Dyshidrotic eczema
• Acute exanthematous pustulosis (drug eruption)

A: SAPHO syndrome is the most likely diagnosis. The presence of pustules and aseptic osteitis of the anterior chest wall is compatible with SAPHO syndrome. Treatment with topical clobetasol propionate (Temovate) for pustules and NSAIDs for osteitis brought a good response.

Pustular psoriasis is an uncommon type of psoriasis characterized by erythema and pustules involving the flexural and anogenital areas. Cutaneous lesions of psoriasis vulgaris may be present before an acute pustular episode. Withdrawal of systemic corticosteroids in a patient with psoriasis has been reported as a precipitating factor.

Impetigo contagiosa is a superficial cutaneous infection characterized by an erythematous macule that evolves into a vesicle or pustule. These lesions are more common in children. Culture of the fluid usually reveals Staphylococcus aureus or S pyogenes.

Dyshidrotic eczema is a pruritic vesicular eruption of unknown cause on the palm and soles (bilateral and symmetric). The typical histologic findings are spongiotic and intraepidermal vesicles.

Acute exanthematous pustulosis is a drug-induced reaction characterized by confluent erythema, blisters, and pustules, mucous membrane erosions with fever, and lymphadenopathy. Cultures of the pustules are negative, and biopsy can help confirm the diagnosis of drug eruption.

SAPHO SYNDROME

SAPHO syndrome is a rare condition of unknown pathogenesis originally described by Chamot et al¹ in 1987. The onset is usually in young adulthood, and is similar in men and women. It is characterized by synovitis, acne, pustulosis, hyperostosis, and osteitis. Of paramount importance is the finding of a non-infectious inflammatory osteitis in a patient with skin lesions.

Clinical findings: Pustules plus rheumatic pain

SAPHO syndrome must be suspected when a patient is affected by a pustular skin disease associated with rheumatic pain. If examination shows that the pain is caused by a sterile inflammation of bone or joints, the diagnosis tends to be confirmed.²

Osteoarticular involvement tends to be limited to the anterior chest wall. It may include aseptic osteitis, hyperostosis, and symmetrical arthritis. Peripheral and axial osteitis is one of the main characteristics of the syndrome and is found in around 90% of cases.

Cutaneous manifestations are present in two-thirds of patients and consist chiefly of severe acne (acne fulminans, acne conglobata, and hidradenitis suppurativa), pustular psoriasis, and palmoplantar pustulosis. Neutrophilic dermatoses associated with this syndrome include Sweet syndrome and pyoderma gangrenosum. Acne lesions are usually seen in men, whereas palmoplantar pustulosis is seen in women,³ often accompanying osteoarticular manifestations.

Radiologic findings in the spine are spondylodiskitis, osteosclerosis, sacroiliac joint involvement, and paravertebral ossification. In anterior chest wall hyperostosis, common findings are bone hypertrophy and sclerosis with a soft-tissue component. Laboratory test results are uncharacteristic, with variable signs of inflammation, and the C-reactive protein and sedimentation rate are usually elevated in the absence of leukocytosis.

Pathogenesis remains elusive

The pathogenesis of this syndrome remains elusive. Since SAPHO syndrome usually involves the axial skeleton, some investigators have suggested a possible link between the SAPHO syndrome and the seronegative spondyloarthopathies.³ It has also been related to an infection by Propionibacterium acnes and Corynebacterium species,⁴ which have been isolated in cultures of bone and skin lesions. However, the fact that these bacteria are contaminant agents makes their involvement in the pathogenesis of this syndrome unlikely. More recently, high concentrations of tumor necrosis factor alpha in bone specimens of patients with SAPHO syndrome have been reported, thus highlighting the central role of this cytokine in maintaining inflammation.

Treatment is to relieve symptoms

Since understanding of the pathogenesis of SAPHO syndrome is limited, a wide range of therapies has been used,⁵ mostly to relieve symptoms. These include NSAIDs; steroids; antibiotics; bisphosphonates such as pamidronate (Aredia) and zoledronic acid (Reclast); and immunosuppressors and immunomodulators such as methotrexate (Trexall), leflunomide (Arava), sulfasalazine (Azulfidine), cyclosporine (Sandimmune). The results with these therapies have been quite varied. Good response has been reported with tumor necrosis factor alpha blockers—infliximab (Remicade), etanercept (Enbrel), and adalimumab (Humira).⁶

A 38-year-old woman presents with recurrent asymptomatic lesions on the palms and soles and on the sides of both feet. The lesions have been developing for 2 months, unaccompanied by fever or other systemic symptoms.

She has a history of episodes of arthritis of the anterior chest wall, which she has treated with nonsteroidal anti-inflammatory drugs (NSAIDs).

Physical examination reveals pustules on the palms and soles (Figure 1 and Figure 2). No lesions are noted on the oral and genital mucosae.

Laboratory tests of C-reactive protein, erythrocyte sedimentation rate, viral serologies, and antinuclear antibodies are normal. A pustule culture is negative, and a cutaneous biopsy shows parakeratosis and elongation of rete ridges, neutrophils migrating from papillary capillaries to the epidermis, and spongiform Kogoj pustule.

Thoracic radiography shows increased density in the sternoclavicular joints, and a three-phase technetium-99m-labeled bone scan and gallium scan reveal radionuclide uptake in the sternoclavicular and manubriosternal joints (Figure 3). Computed tomography of the thorax and abdomen reveal no abnormalities.

Q: Which is the most likely diagnosis?

• Pustular psoriasis
• Impetigo contagiosa
• Syndrome of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO)
• Dyshidrotic eczema
• Acute exanthematous pustulosis (drug eruption)

A: SAPHO syndrome is the most likely diagnosis. The presence of pustules and aseptic osteitis of the anterior chest wall is compatible with SAPHO syndrome. Treatment with topical clobetasol propionate (Temovate) for pustules and NSAIDs for osteitis brought a good response.

Pustular psoriasis is an uncommon type of psoriasis characterized by erythema and pustules involving the flexural and anogenital areas. Cutaneous lesions of psoriasis vulgaris may be present before an acute pustular episode. Withdrawal of systemic corticosteroids in a patient with psoriasis has been reported as a precipitating factor.

Impetigo contagiosa is a superficial cutaneous infection characterized by an erythematous macule that evolves into a vesicle or pustule. These lesions are more common in children. Culture of the fluid usually reveals Staphylococcus aureus or S pyogenes.

Dyshidrotic eczema is a pruritic vesicular eruption of unknown cause on the palm and soles (bilateral and symmetric). The typical histologic findings are spongiotic and intraepidermal vesicles.

Acute exanthematous pustulosis is a drug-induced reaction characterized by confluent erythema, blisters, and pustules, mucous membrane erosions with fever, and lymphadenopathy. Cultures of the pustules are negative, and biopsy can help confirm the diagnosis of drug eruption.

SAPHO SYNDROME

SAPHO syndrome is a rare condition of unknown pathogenesis originally described by Chamot et al¹ in 1987. The onset is usually in young adulthood, and is similar in men and women. It is characterized by synovitis, acne, pustulosis, hyperostosis, and osteitis. Of paramount importance is the finding of a non-infectious inflammatory osteitis in a patient with skin lesions.

Clinical findings: Pustules plus rheumatic pain

SAPHO syndrome must be suspected when a patient is affected by a pustular skin disease associated with rheumatic pain. If examination shows that the pain is caused by a sterile inflammation of bone or joints, the diagnosis tends to be confirmed.²

Osteoarticular involvement tends to be limited to the anterior chest wall. It may include aseptic osteitis, hyperostosis, and symmetrical arthritis. Peripheral and axial osteitis is one of the main characteristics of the syndrome and is found in around 90% of cases.

Cutaneous manifestations are present in two-thirds of patients and consist chiefly of severe acne (acne fulminans, acne conglobata, and hidradenitis suppurativa), pustular psoriasis, and palmoplantar pustulosis. Neutrophilic dermatoses associated with this syndrome include Sweet syndrome and pyoderma gangrenosum. Acne lesions are usually seen in men, whereas palmoplantar pustulosis is seen in women,³ often accompanying osteoarticular manifestations.

Radiologic findings in the spine are spondylodiskitis, osteosclerosis, sacroiliac joint involvement, and paravertebral ossification. In anterior chest wall hyperostosis, common findings are bone hypertrophy and sclerosis with a soft-tissue component. Laboratory test results are uncharacteristic, with variable signs of inflammation, and the C-reactive protein and sedimentation rate are usually elevated in the absence of leukocytosis.

Pathogenesis remains elusive

The pathogenesis of this syndrome remains elusive. Since SAPHO syndrome usually involves the axial skeleton, some investigators have suggested a possible link between the SAPHO syndrome and the seronegative spondyloarthopathies.³ It has also been related to an infection by Propionibacterium acnes and Corynebacterium species,⁴ which have been isolated in cultures of bone and skin lesions. However, the fact that these bacteria are contaminant agents makes their involvement in the pathogenesis of this syndrome unlikely. More recently, high concentrations of tumor necrosis factor alpha in bone specimens of patients with SAPHO syndrome have been reported, thus highlighting the central role of this cytokine in maintaining inflammation.

Treatment is to relieve symptoms

Since understanding of the pathogenesis of SAPHO syndrome is limited, a wide range of therapies has been used,⁵ mostly to relieve symptoms. These include NSAIDs; steroids; antibiotics; bisphosphonates such as pamidronate (Aredia) and zoledronic acid (Reclast); and immunosuppressors and immunomodulators such as methotrexate (Trexall), leflunomide (Arava), sulfasalazine (Azulfidine), cyclosporine (Sandimmune). The results with these therapies have been quite varied. Good response has been reported with tumor necrosis factor alpha blockers—infliximab (Remicade), etanercept (Enbrel), and adalimumab (Humira).⁶

A 45-year-old woman who has been undergoing hemodialysis for 20 years presents with diffuse bone pain, pruritic skin, muscle weakness, and disability. About 8 years ago, she was diagnosed with uremic hyperparathyroidism and underwent two parathyroidectomy procedures and eight sessions of percutaneous alcohol ablation of the parathyroid gland.

On physical examination, she appears to have shrunk by 20 cm over the past 8 years, measured as the vertical height from head to foot, or by 13 cm of total body length when the curvature of the thoracic spine is taken into account. Radiography clearly shows severe deformity of the spine and limbs (Figure 1 and Figure 2).

Laboratory testing reveals a serum calcium concentration of 11.9 mg/dL (reference range 8.2–10.2), inorganic phosphorus 6.6 mg/dL (reference range 2.3–4.7), albumin 3.9 g/dL (reference range 3.5–5.0), and parathyroid hormone 1,747 pg/mL (reference range 10– 69).

A technetium-99m sestamibi radionuclide scan shows bilateral parathyroid hyperplasia with no ectopic parathyroid adenomas. Although a surgeon she consulted 1 month ago declined to perform another parathyroidectomy for technical reasons, another surgeon agreed to do it at this time. Parathyroidectomy was successfully performed, after which the parathyroid hormone level decreased drastically, to 85 pg/mL.

To our surprise, her total body length increased by 6 to 7 cm after surgery, with partial straightening of the back and legs noted about 4 to 5 weeks after surgery. Furthermore, she was able to walk a short distance just a few weeks after surgery. Unfortunately, she died from sepsis the next year.

SEVERE UREMIC HYPERPARATHYROIDISM: A CLINICAL DILEMMA

The clinical appearance of reduced body length and diffuse bony deformity leading to “shrinking” as a consequence of prolonged severe uremic hyperparathyroidism has only rarely been reported.¹ However, it is not uncommon for surgeons to decide against parathyroidectomy because of concerns of extensive subcutaneous fibrosis and recurrent laryngeal nerve damage associated with previous operations. The result is that the patient’s uremic hyperparathyroidism goes untreated, increasing the risk of long-term complications, as in this patient.

TYPICAL RADIOGRAPHIC FEATURES

This patient had all the cardinal radiographic manifestations of uremic hyperparathyroidism—a “salt-and-pepper” appearance of the skull, which is a sign of trabecular bone resorption; “rugger-jersey” spine, or widespread osteosclerosis below the end plates of each vertebral body (thus giving the appearance of the stripes on a rugby jersey) (Figure 3); and twisted upper and lower limbs with scattered phalangeal subperiosteal erosions due to exaggerated bone resorption and vascular calcification. Although the gold standard for diagnosing uremic osteodystrophy remains bone biopsy, these characteristic radiographic manifestations of extensive bone resorption with simultaneous biomarkers referring to high bone turnover are usually diagnostic. In fact, they may predict the duration and severity of the disease.^2,3

Why the body length increases after parathyroidectomy is not yet known, but plausible mechanisms are the effects of a recovery of muscle strength and the vigorous bony remineralization that strengthens weight-bearing bones after resolution of uremic hyperparathyroidism.

THE DANGERS OF DELAYED TREATMENT

Delaying parathyroidectomy may induce prolonged and severe uremic hyperparathyroidism, as in this patient. Nevertheless, despite the delay, surgery was able to partially ameliorate the symptoms of hyperparathyroidism and improve the extreme bone deformity. However, the patient’s informed consent, a detailed preoperative evaluation, and exclusion of ectopic parathyroid adenomas are imperative before surgical treatment.

A 45-year-old woman who has been undergoing hemodialysis for 20 years presents with diffuse bone pain, pruritic skin, muscle weakness, and disability. About 8 years ago, she was diagnosed with uremic hyperparathyroidism and underwent two parathyroidectomy procedures and eight sessions of percutaneous alcohol ablation of the parathyroid gland.

On physical examination, she appears to have shrunk by 20 cm over the past 8 years, measured as the vertical height from head to foot, or by 13 cm of total body length when the curvature of the thoracic spine is taken into account. Radiography clearly shows severe deformity of the spine and limbs (Figure 1 and Figure 2).

Laboratory testing reveals a serum calcium concentration of 11.9 mg/dL (reference range 8.2–10.2), inorganic phosphorus 6.6 mg/dL (reference range 2.3–4.7), albumin 3.9 g/dL (reference range 3.5–5.0), and parathyroid hormone 1,747 pg/mL (reference range 10– 69).

A technetium-99m sestamibi radionuclide scan shows bilateral parathyroid hyperplasia with no ectopic parathyroid adenomas. Although a surgeon she consulted 1 month ago declined to perform another parathyroidectomy for technical reasons, another surgeon agreed to do it at this time. Parathyroidectomy was successfully performed, after which the parathyroid hormone level decreased drastically, to 85 pg/mL.

To our surprise, her total body length increased by 6 to 7 cm after surgery, with partial straightening of the back and legs noted about 4 to 5 weeks after surgery. Furthermore, she was able to walk a short distance just a few weeks after surgery. Unfortunately, she died from sepsis the next year.

SEVERE UREMIC HYPERPARATHYROIDISM: A CLINICAL DILEMMA

The clinical appearance of reduced body length and diffuse bony deformity leading to “shrinking” as a consequence of prolonged severe uremic hyperparathyroidism has only rarely been reported.¹ However, it is not uncommon for surgeons to decide against parathyroidectomy because of concerns of extensive subcutaneous fibrosis and recurrent laryngeal nerve damage associated with previous operations. The result is that the patient’s uremic hyperparathyroidism goes untreated, increasing the risk of long-term complications, as in this patient.

TYPICAL RADIOGRAPHIC FEATURES

This patient had all the cardinal radiographic manifestations of uremic hyperparathyroidism—a “salt-and-pepper” appearance of the skull, which is a sign of trabecular bone resorption; “rugger-jersey” spine, or widespread osteosclerosis below the end plates of each vertebral body (thus giving the appearance of the stripes on a rugby jersey) (Figure 3); and twisted upper and lower limbs with scattered phalangeal subperiosteal erosions due to exaggerated bone resorption and vascular calcification. Although the gold standard for diagnosing uremic osteodystrophy remains bone biopsy, these characteristic radiographic manifestations of extensive bone resorption with simultaneous biomarkers referring to high bone turnover are usually diagnostic. In fact, they may predict the duration and severity of the disease.^2,3

Why the body length increases after parathyroidectomy is not yet known, but plausible mechanisms are the effects of a recovery of muscle strength and the vigorous bony remineralization that strengthens weight-bearing bones after resolution of uremic hyperparathyroidism.

THE DANGERS OF DELAYED TREATMENT

Delaying parathyroidectomy may induce prolonged and severe uremic hyperparathyroidism, as in this patient. Nevertheless, despite the delay, surgery was able to partially ameliorate the symptoms of hyperparathyroidism and improve the extreme bone deformity. However, the patient’s informed consent, a detailed preoperative evaluation, and exclusion of ectopic parathyroid adenomas are imperative before surgical treatment.

A 45-year-old woman who has been undergoing hemodialysis for 20 years presents with diffuse bone pain, pruritic skin, muscle weakness, and disability. About 8 years ago, she was diagnosed with uremic hyperparathyroidism and underwent two parathyroidectomy procedures and eight sessions of percutaneous alcohol ablation of the parathyroid gland.

On physical examination, she appears to have shrunk by 20 cm over the past 8 years, measured as the vertical height from head to foot, or by 13 cm of total body length when the curvature of the thoracic spine is taken into account. Radiography clearly shows severe deformity of the spine and limbs (Figure 1 and Figure 2).

Laboratory testing reveals a serum calcium concentration of 11.9 mg/dL (reference range 8.2–10.2), inorganic phosphorus 6.6 mg/dL (reference range 2.3–4.7), albumin 3.9 g/dL (reference range 3.5–5.0), and parathyroid hormone 1,747 pg/mL (reference range 10– 69).

A technetium-99m sestamibi radionuclide scan shows bilateral parathyroid hyperplasia with no ectopic parathyroid adenomas. Although a surgeon she consulted 1 month ago declined to perform another parathyroidectomy for technical reasons, another surgeon agreed to do it at this time. Parathyroidectomy was successfully performed, after which the parathyroid hormone level decreased drastically, to 85 pg/mL.

To our surprise, her total body length increased by 6 to 7 cm after surgery, with partial straightening of the back and legs noted about 4 to 5 weeks after surgery. Furthermore, she was able to walk a short distance just a few weeks after surgery. Unfortunately, she died from sepsis the next year.

SEVERE UREMIC HYPERPARATHYROIDISM: A CLINICAL DILEMMA

The clinical appearance of reduced body length and diffuse bony deformity leading to “shrinking” as a consequence of prolonged severe uremic hyperparathyroidism has only rarely been reported.¹ However, it is not uncommon for surgeons to decide against parathyroidectomy because of concerns of extensive subcutaneous fibrosis and recurrent laryngeal nerve damage associated with previous operations. The result is that the patient’s uremic hyperparathyroidism goes untreated, increasing the risk of long-term complications, as in this patient.

TYPICAL RADIOGRAPHIC FEATURES

This patient had all the cardinal radiographic manifestations of uremic hyperparathyroidism—a “salt-and-pepper” appearance of the skull, which is a sign of trabecular bone resorption; “rugger-jersey” spine, or widespread osteosclerosis below the end plates of each vertebral body (thus giving the appearance of the stripes on a rugby jersey) (Figure 3); and twisted upper and lower limbs with scattered phalangeal subperiosteal erosions due to exaggerated bone resorption and vascular calcification. Although the gold standard for diagnosing uremic osteodystrophy remains bone biopsy, these characteristic radiographic manifestations of extensive bone resorption with simultaneous biomarkers referring to high bone turnover are usually diagnostic. In fact, they may predict the duration and severity of the disease.^2,3

Why the body length increases after parathyroidectomy is not yet known, but plausible mechanisms are the effects of a recovery of muscle strength and the vigorous bony remineralization that strengthens weight-bearing bones after resolution of uremic hyperparathyroidism.

THE DANGERS OF DELAYED TREATMENT

Delaying parathyroidectomy may induce prolonged and severe uremic hyperparathyroidism, as in this patient. Nevertheless, despite the delay, surgery was able to partially ameliorate the symptoms of hyperparathyroidism and improve the extreme bone deformity. However, the patient’s informed consent, a detailed preoperative evaluation, and exclusion of ectopic parathyroid adenomas are imperative before surgical treatment.