Jennie T. Clarke

Multiple familial trichoepitheliomas: a folliculosebaceous-apocrine genodermatosis.

We reviewed the pathologic findings on a family with multiple hereditary trichoepitheliomas. Although the majority of the lesions were trichoepitheliomas, basal cell carcinomas, spiradenomas, and spiradenomas with cylindromatous foci (spiradenocylindroma) were present, representing a spectrum of lesions exhibiting folliculosebaceous (trichoepithelioma, basal cell carcinoma) and apocrine (spiradenoma, spiradenocylindroma) differentiation. Multiple familial trichoepitheliomas may be a syndrome whereby tumors develop from undifferentiated germinative cells of the folliculosebaceous-apocrine unit. Published findings regarding the genetics of this syndrome and solitary trichoepitheliomas are reviewed; although the molecular basis for the tumors has yet to be determined, current data suggest that a tumor suppressor gene may be involved.

Cdc7 expression in melanomas, Spitz tumors and melanocytic nevi.

Background:  Cdc7 is a serine‐threonine kinase required for initiation of DNA replication that may play a role in the development and progression of melanoma.

Rheumatic manifestations of skin disease.

Purpose of reviewThere is an increasing interest in improving the understanding of pathophysiology, outcome measures, and therapies of rheumatic skin disease. Increasingly, studies are using the skin as a primary endpoint for evaluating therapies. This will review the current state of the art for the most common rheumatic skin diseases. Recent findingsA number of medications, including biologics such as tumor necrosis factor α and interferon, have been associated with onset of cutaneous lupus. The cutaneous lupus erythematosus area and severity index has been further validated and utilized in a number of studies. Smoking continues to be associated both with presence and refractoriness of cutaneous lupus erythematosus to therapy. There are several tools now available for evaluating the skin disease of dermatomyositis, but there is a need for new effective therapies. Measurement of skin disease in scleroderma continues to be a challenge, and there is a need for more effective therapies. Several studies show efficacy of intravenous iloprost for severe Raynauds and skin ulcers, and of bosentan for digital ulcers. SummaryThe present review covers new outcome measures, treatments, and unusual manifestations of cutaneous lupus, dermatomyositis, scleroderma, and rheumatoid arthritis. There have been a number of new studies related to validation of disease activity measures, as well as their use in evaluation of new therapies for these conditions. Validated outcome measures are required to perform meaningful studies, and will facilitate organized epidemiologic, quality of life, and therapeutic studies.

Dermal dendritic cells in psoriasis, nummular dermatitis, and normal-appearing skin

BACKGROUND The reason psoriasis (PSO) favors extensor skin is unknown. We hypothesized that PSO may involve extensor skin preferentially because of differences in the number or type of dermal dendritic cells (dDCs) between flexural and extensor skin. OBJECTIVE We sought to compare dDC type and distribution in normal-appearing flexural and extensor skin, PSO, and nummular dermatitis (ND). METHODS Using immunohistochemical markers, the number, distribution, and type of Langerhans cells, myeloid dendritic cells (DCs), and plasmacytoid DCs was compared in normal-appearing skin, PSO, and ND. RESULTS Significant differences in dDC density were not identified between flexural and extensor skin, although extensor skin contained fewer CD11a(+) and CD11c(+) cells. Compared with normal-appearing skin, cells expressing CD11a, CD11c, CD123, CD303, and CD207 were increased in PSO. ND lesions showed similar increases. No significant difference between PSO and ND was evident with the exception of decreased S100A6(+) cells in PSO. LIMITATIONS We did not study seasonal variation in DC density or assess nonlesional skin from patients with PSO. CONCLUSIONS The data did not support the hypothesis that PSO favors extensor skin because of differences in DC localization. However, dDCs were significantly increased in PSO by comparison with normal-appearing skin, supporting existing evidence that they are involved in the overall pathogenesis of PSO.

Therapy of cutaneous lupus erythematosus

Cutaneous lupus erythematosus, which is 2–3 times more common than systemic lupus erythematosus, is an entity frequently encountered by dermatologists. While most patients will respond well to standard therapies, including photoprotection, topical steroids and antimalarials, a minority of patients have refractory disease that is challenging to treat. There is a paucity of data in the literature to aid the clinician in determining which therapies to employ in treating these difficult patients. This review will discuss the available therapies, the data supporting their use and the authors’ own experience, in order to help guide the practitioner and to highlight the need for more clinical research in the treatment of cutaneous lupus erythematosus.

Reactive angioendotheliomatosis in association with a well-differentiated angiosarcoma.

A 55-year-old white female with a complex medical history including mixed connective tissue disease and peripheral vascular disease developed a group of red-purple papules on her proximal medial thigh that was followed, five months later, by the development of a large violaceous patch. She reported a history of radiation to this site (for melanoma) during her childhood. She was admitted to the hospital with a presumptive diagnosis of cellulitis, but failed to respond to antibiotics. A biopsy was performed and demonstrated a well-differentiated angiosarcoma arising in conjunction with reactive angioendotheliomatosis. Excision of the lesion was performed, and fifteen months of follow-up have shown no recurrence or metastasis.

Mucocutaneous granulomatous disease in a patient with Hermansky-Pudlak syndrome.

IMPORTANCE Hermansky-Pudlak syndrome (HPS) is a rare genodermatosis characterized by oculocutaneous albinism, platelet dysfunction, and in some patients, pulmonary fibrosis and granulomatous colitis. The granulomatous inflammation in the bowel of patients with HPS can be indistinguishable clinically and histologically from that of Crohn disease (CD); however, mucocutaneous granulomatous lesions have not been considered among the typical skin findings of HPS. OBSERVATIONS We report a case of an albino woman in her 40s with a history of CD and pulmonary fibrosis who presented with ulcers, plaques, and nodules in the vulva, perineum, inguinal creases, and left axilla. These cutaneous findings had the typical clinical and histologic findings of metastatic cutaneous CD. However, she also had a genetically confirmed diagnosis of HPS. CONCLUSIONS AND RELEVANCE It is unclear whether our patients cutaneous findings were due to CD or secondary to HPS. This report reviews the features of HPS and CD, 2 entities characterized by a granulomatous inflammatory reaction pattern but with unique genetic and clinical features, and discusses the possible overlap between the 2 diagnoses.

The use of donated products to train residents to perform injectable cosmetic procedures.

As dermatology residency program director, Dr Duco recently reviewed the Accreditation Council for Graduate Medical Education (ACGME) guidelines for resident graduation. She noticed that performing or observing cosmetic procedures, such as botulinum toxin and soft tissue filler injections, are listed under surgical requirements. Currently, residents have a limited opportunity either to perform or to observe these procedures under faculty supervision. To fulfill accreditation requirements, the residency program started an after-hours clinic staffed with a full-time faculty member who supervises the cosmetic procedures performed by the residents. All patients are volunteers and receive cosmetic services at no charge. Pharmaceutical companies provide the products to the department free of charge through a company training grant. The cosmetic clinic recently came under scrutiny because the institution designated these cosmetic injectable products as samples, and sampling is prohibited by the hospital.

A slow-growing nodular plaque

flow cytometry and immunohistochemical analysis. PCMZLs also express the immunoglobulins IgG, IgA, and IgE in contrast to most noncutaneous marginal zone lymphomas, which express only IgM. Because of its limited and indolent course, less aggressive therapies with surgery and radiation are the gold standards of treatment. Rituximab (antiCD20 monoclonal antibody), intralesional interferon-alfa, single-agent chemotherapy with chlorambucil, and multiagent chemotherapy with CHOP (cyclophosphamide, adriamycin, oncovin, and prednisone) have all been used successfully, obtaining either near or complete responses as in surgery or radiotherapy. In contrast to the successful treatment of gastric lymphomas with antibiotics, antibiotic therapy remains controversial in PCMZL because it has shown inconsistent improvement. Despite near to complete responses with the above treatments, relapse rates are common ranging as high as 47% for radiotherapy and 32% for local excision. The patient presented here was treated with radiotherapy and a complete response was observed. Classified by the WHO/EORTC as a CBCL in 2005, PCMZL is a low grade, indolent B-cell lymphoma restricted to the skin. The lesions are usually solitary, and patients are otherwise asymptomatic, lacking signs of systemic symptoms or abnormal laboratory results that would suggest systemic lymphoma. Currently, evidence suggests a chronic antigen stimulus hypothesis and points to B burgdorferi as the leading candidate. Surgery and radiation are the mainstays of treatment for PCMZL, but despite having near complete response rates, relapses are common. Surprisingly, antibiotic therapyhas failed to consistently show improvement in patients. Our patient was treatedwith radiation therapy, and the lesion completely resolved. For this series, the recommended choices are: 1, a; 2, a; 3, b; 4, b; 5, e; 6, b; 7, b.

Annular keratotic papules on the extremities

Cohen et al have proposed a comprehensive diagnostic and treatment plan for patients diagnosed with MTS or carrying an MTS-prone sebaceous neoplasm and their family members. This includes a review of the patient’s annual medical records and a comprehensive physical examination, regular monitoring of the serum carcinoembryonic antigen level, upper gastrointestinal endoscopy and colonoscopy, chest radiography, urine cytology, computed tomography scans of the abdomen and pelvis, mammography, cervical smear, and endometrial biopsy. Immunohistochemical staining for MSH2, MSH6, and MLH1 protein expression was found to be useful for identifying the underlying mismatch repair defects in the sebaceous neoplasm and for additional molecular analysis of the disease. For this series, the recommended choices are: 1, a; 2, c; 3, c; 4, d.