Clonal cutaneous and neurosyphilis: A pitfall in pseudolymphoma diagnosis.

Syphilis is a sexually transmitted infectious disease caused by the bacterium Treponema pallidum and can cause a wide variety of cutaneous manifestations, most commonly, a papulosquamous eruption of the trunk and extremities. Treatment with penicillin is curative. We report a case of a 69-year-old man who presented with recent onset of blurry vision and a nonpainful, nonpruritic eruption of pink-to-violaceous dermal nodules on his upper trunk and upper extremities. Biopsies of two separate locations revealed a dense superficial and deep perivascular atypical lymphocytic infiltrate with admixed plasma cells, histiocytes, and eosinophils. Some scattered cells expressed CD30, PD1, BCL-6, and ICOS. T-cell receptor (TCR)-rearrangement showed an identical TCR-gamma clone between both biopsy specimens. The patient was subsequently seen by ophthalmology and diagnosed with acute anterior uveitis. Rapid plasma reagin was reactive and cerebrospinal fluid studies showed findings consistent with a diagnosis of neurosyphilis. A T. pallidum immunostain of the skin biopsies was performed upon re-review, and was diffusely positive for spirochetes at the dermal-epidermal junction and within injured vessels. The patient was treated with penicillin G with near-resolution of his skin lesions. This case highlights the unusual ability of syphilis to mimic a T-cell lymphoma with matching clones across two different biopsy sites.

An Ode to Kodachrome: The Color Film That Transformed Dermatologic Medical Education.

Importance: From its debut in 1935 until its discontinuation in 2009, Eastman Kodak Company's Kodachrome color reversal film was a cornerstone for dermatologic teaching innovations that transformed 20th century medical education. This Special Communication examines Kodachrome's contributions to the field of dermatology, as well as its lessons for improving inclusive representation of patients of all skin tones in 21st century dermatologic curricula. Observations: Kodachrome's color quality, its slide transparency format, and its broad commercial availability democratized the creation, sharing, and teaching of visual information about skin disease in the 20th century. Kodachrome's usefulness as a complement to bedside teaching modernized medical school curricula, dermatologic conferences, and the American Board of Dermatology certifying examination, which inspired the Kodachrome-style of didactic that remains central to dermatologic training programs today. However, Kodachrome film was also the product of a prejudiced era when color film technology and photographic best practices were optimized for white skin. These biases are still evident in industry standards, photographic techniques, and the historically unjust representation of skin of color in educational resources. Conclusions and Relevance: Kodachrome film contributed substantially to shaping 20th-century medical education; however, its legacy is a reminder that diverse and inclusive image representation in dermatologic curricula is vital to counteracting implicit biases, correcting assumptions about disease epidemiology, and providing high-quality care for patients of all skin tones. Historical biases that have harmed representations of racial and ethnic minorities in dermatologic curricula are being addressed through improvements in digital photographic technologies, photographic best practices that serve a broader range of skin tones, inclusive skin color representation in contemporary educational resources, and skin-of-color specific curriculum for learners.

Imiquimod cream 5% for the treatment of arsenic-induced cutaneous neoplasms.

Long-term exposure to arsenic has been linked to the development of numerous cutaneous neoplasms including arsenical keratoses, basal cell carcinomas (BCCs), and squamous cell carcinomas (SCCs). We report a patient with a remote history of psoriasis treated with arsenic who subsequently developed more than 40 nonmelanoma skin cancers as well as arsenical keratoses. This patient had a remarkable response to imiquimod cream 5% applied once daily to affected areas for 6 weeks with complete resolution of all cutaneous neoplasms and no evidence of recurrence in more than 3 years of clinical surveillance.

Acquired hypertrichosis lanuginosa as a presenting sign of metastatic prostate cancer with rapid resolution after treatment.

BACKGROUND: Acquired hypertrichosis lanuginosa (AHL) is a rare cutaneous disorder that involves spontaneous growth of lanugo-type hair in association with overt or occult malignant neoplasms. Bronchopulmonary and gastrointestinal malignancies are most commonly associated. CASE PRESENTATION: We report the occurrence of AHL associated with metastatic prostate cancer and its abrupt resolution after bilateral orchiectomy. To our knowledge, this is the first reported case of an association with prostate cancer. LIMITATIONS: The case presented represents a single patient; therefore, the findings and results reported may not be applicable to all patient populations. CONCLUSION: A variety of cutaneous findings are considered warning indicators of underlying neoplastic disease. Physician awareness of such signs can prompt timely and potentially life-saving investigations and interventions. AHL is regarded as such a sign. Physician awareness of the addition of prostate cancer to the growing list of AHL-associated malignancies provides rationale for appropriate testing and referral.

Immunoglobulin A pemphigus involving the perianal skin and oral mucosa: an unusual presentation.

Immunoglobulin A (IgA) pemphigus is a rare autoimmune blistering disease characterized by epidermal acantholysis and neutrophilic infiltrates, as well as intraepidermal IgA deposits. We report an unusual case of IgA pemphigus involving anal/ perianal skin and oral mucosa that demonstrated a successful response to dapsone treatment.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) associated with pemphigoid nodularis: a case report and review of the literature.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a rare disorder caused by mutations of the FOXP3 gene. The FOXP3 gene encodes a DNA-binding protein of the forkhead/winged-helix family and is the central controller of the development of CD4+CD25+ regulatory T cells. CD4+CD25+ regulatory T cells help prevent autoimmune disease; a deficiency of these cells causes increased immunologic reactivity and autoimmunity. We describe a 14-year-old boy with IPEX syndrome confirmed by mutation analysis of the FOXP3 gene. The patient had chronic dermatitis and later developed bullous pemphigoid. He subsequently formed diffuse prurigo nodularis-like lesions resistant to multiple topical and systemic immunosuppressive medications. These lesions were confirmed by biopsy, direct immunofluorescence, and enzyme-linked immunosorbent assay of the 180 kd bullous pemphigoid antigen to be pemphigoid nodularis. He recently responded to rituximab, allowing discontinuation of his oral prednisone.

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

Erythrokeratodermia variabilis is an autosomal dominant genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The disorder maps to a cluster of connexin genes on chromosome 1p34-p35.1 and, in a subset of families, results from mutations in the gene GJB3 encoding the gap junction protein connexin-31 (Cx31). A recent report suggested the involvement of another connexin gene (GJB4) in the etiology of erythrokeratodermia variabilis. In this study, we sequenced the coding region of GJB4 in 13 unrelated erythrokeratodermia variabilis families without detectable mutations in GJB3. Mutation analysis revealed six distinct missense mutations in five families and a sporadic case of erythrokeratodermia variabilis, all of which were not found in controls. Mutation G12D, identified in an extended Dutch family, lies in the predicted amino-terminus and may interfere with the flexibility of this domain, connexin selectivity, or gating polarity of gap junction channels. Other mutations (R22H, T85P, F137L, F189Y) were located in the transmembrane domains of Cx30.3, and are predicted to hinder regulation of voltage gating or alter the kinetics of channel closure. Affected individuals of two unrelated families harbored point mutations leading to amino acid substitution F137L, which was also reported in GJB3, yet the extent and severity of hyperkeratosis was milder compared to the corresponding mutation in GJB3. Two mutations (T85P, F137L) were associated with the occurrence of rapidly changing erythematous patches with prominent, circinate, or gyrate borders in affected children but not in adults, supporting the notion that this feature is specific to Cx30.3 defects. Nevertheless, we observed highly variable intrafamilial phenotypes, suggesting the strong influence of modifying genetic and epigenetic factors. In addition to pathogenic mutations, we identified several missense mutations and a 4 bp deletion within the GJB4 coding region, which might represent either inconsequential polymorphisms or recessive mutations. In conclusion, our results demonstrate genetic heterogeneity in erythrokeratodermia variabilis, and emphasize that intercellular communication mediated by both Cx31 and Cx30.3 is crucial for epidermal differentiation.

Fluticasone-associated cutaneous allergic granulomatous vasculitis.

Allergic granulomatous vasculitis, or Churg-Strauss syndrome, is a small-vessel, multisystem vasculitis that can affect the skin, lungs, heart, and nervous system. Recent reports have implicated leukotriene receptor antagonists and inhaled corticosteroids in the development of this rare syndrome. We present a patient with no history of allergic asthma who acutely developed skin-limited Churg-Strauss-like granulomatous vasculitis after initiating therapy with inhaled fluticasone and salmeterol (Advair Diskus).

Coexistent infections on a child's distal phalanx: blistering dactylitis and herpetic whitlow.

We report a case of coexistent Staphylococcus aureus and herpes simplex virus (HSV) infections responsible for a bullous and vesicular eruption on a child's distal phalanx. Blistering distal dactylitis (BDD), a superficial infection of the distal portion of the finger, is seen most commonly in children and is caused by either beta-hemolytic streptococci or S aureus. Herpetic whitlow, also a blistering infection found on children's distal fingers, is a bacteriologic sterile infection caused by HSV-1 or HSV-2. In this report, we note that these infections may coexist on the distal phalanx. This case has implications for diagnosis and treatment of children's blistering hand diseases.

Watersport hands.

Aquagenic syringeal acrokeratoderma is a newly described condition of the palms and soles characterized by hypopigmented papules and plaques, elicited after submersion in water. Symptoms include a burning pain and a tightening sensation in the palms, as well as hyperhidrosis. Initially thought to be rare, its frequent citation in the literature points to a more common entity. It is more often found in young women and has been linked to a number of medications and illnesses, including nonsteroidal anti-inflammatory drugs and cystic fibrosis. It is typically self-limiting, but certain medications such as topical aluminum chloride or salicylic acid ointment have been found to be an effective treatment option. This case details a collegiate-level coxswain who presented to the university athletic training room with a typical presentation of aquagenic syringeal acrokeratoderma. For an aquatic athlete, aquagenic syringeal acrokeratoderma can be a distressing condition that can limit training and athletic participation. As such, the sports medicine physician should be knowledgeable about aquagenic syringeal acrokeratoderma to provide effective counseling and treatment options for the athlete.

Cystic fibrosis presenting with dermatitis.

BACKGROUND: Patients with cystic fibrosis classically present with evidence of pulmonary disease, exocrine pancreatic insufficiency, and high sweat chloride concentrations. Dermatitis as an initial manifestation of the disease is uncommon and has been attributed to multiple nutritional deficiencies. OBSERVATION: We describe the case of a 3-month-old female infant with cystic fibrosis presenting with dermatitis in the setting of protein-energy malnutrition. A review of the laboratory study results in this case and others showed that a deficiency in zinc, essential fatty acids, and protein likely contributes to the development of the rash seen in cystic fibrosis. CONCLUSIONS: Given the frequent delay in diagnosis, as well as the increased morbidity and mortality associated with protein-energy malnutrition in these patients, it is important to consider cystic fibrosis as a possible diagnosis in any infant presenting with a rash and other signs of malnutrition. The relative contribution of specific nutritional deficiencies and the degree to which they influence and interact with each other in producing the dermatitis remain unclear, although they may all affect a common underlying metabolic pathway.

Prune-belly syndrome in two children and review of the literature.

Prune-belly syndrome is a congenital disorder characterized by abdominal wall musculature deficiency, urinary tract anomalies, and bilateral cryptorchidism. Because of the defect in the musculature, the abdominal skin has a peculiar wrinkled appearance. The syndrome is commonly associated with pulmonary, skeletal, cardiac, and gastrointestinal defects. Developmental delays and growth retardation have also been reported. The incidence of prune belly syndrome is approximately 1:40,000 live births. Over 95% of patients are men. Urinary tract disease is the major prognostic factor, with the complications of pulmonary hypoplasia and end stage renal disease resulting in a mortality rate of 60%. Treatment involves surgical correction of the abdominal wall defect and urinary tract abnormalities, early orchiopexy, and supportive management of associated defects.

Radiation-induced morphea occurring after fluoroscopy.

We describe a patient in whom radiation-induced morphea developed after undergoing fluoroscopically guided repair of an abdominal aortic aneurysm.