Muir-Torre Syndrome: A Case Report in a Woman Without Personal Cancer History.

We report a case of a 68-year-old white woman presenting with 5 sebaceous neoplasms, ranging from sebaceous adenoma to sebaceoma on histopathology. Despite the lack of a personal cancer history, her multiple sebaceous neoplasms and a paternal history of colon cancer prompted testing her sebaceous adenomas for microsatellite instability (MSI) by immunohistochemistry. The results showed retained nuclear expressions of MLH1 and PMS2 while MSH2 and MSH6 proteins were absent. The tumor infiltrating lymphocytes expressed both MSH2 and MSH6, providing reliable internal positive controls. Having a high probability for MSI, she was found to be heterozygous for a germline point mutation in MSH2 gene, where a pathologic variant, c.1165C > T (p.Arg389*), determined by sequencing confirmed Muir-Torre syndrome (MTS). On further genetic counseling recommendations, one of her 2 sons was found to have colon cancer in the context of his MTS. In this article, we highlight and review the implications of MSI testing by both immunohistochemistry and sequencing as they relate to confirming the diagnosis of a suspected case of MTS.

Facial lipogranulomas due to self-injection of vitamin A oil.

Lipogranulomas represent foreign body reactions to exogenous lipid or oil-like substances introduced into the skin. These lesions characteristically have round-to-ovoid, vacuole-like cavities of varying sizes in the dermis, which results in a Swiss cheese-like appearance. We present the case of a 51-year-old Hispanic woman with an onset of painful, swollen, subcutaneous nodules on the face, most prominently on the right lower lip and both cheeks, after multiple self-injections of vitamin A oil. Histopathology test results of the lower lip showed a superficial-to-deep, nodular and interstitial, polymorphous inflammatory infiltrate of predominantly histiocytes with necrobiotic-type granulomatous changes, lymphocytes, and plasma cells. The cheek revealed deep dermal and subcutaneous small collections of foamy/vacuolated histiocytes, without significant numbers of other inflammatory cells. Given the patient's history of injecting oil extracted from vitamin A capsules into her skin, the light microscopic features are consistent with lipogranulomatous changes that are secondary to a local injection of foreign material. Clinicians and pathologists should be aware of the granulomatous immune reaction generated by the injection of unregulated products into the face and other areas of the body.

Ethnic skin: Kids are not just little people.

There are numerous skin conditions that occur commonly in children with ethnic skin, including vitiligo, progressive macular hypomelanosis, pityriasis alba, acne keloidalis nuchae, pseudofolliculitis barbae, and keloids. Though these conditions occur in both children and adults, children may have different patterns of clinical presentation and response to therapy. In caring for such patients, important treatment considerations include side effects of systemic medications and tolerability of invasive procedures. Quality of life is an important measure and should not be compromised by either the skin disease or its treatment.

Pigmentary disorders of the eyes and skin.

Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology. Onchocerciasis results from a systemic inflammatory response to a nematode infection. Hypomelanosis of Ito is caused by chromosomal mosaicism, which underlies its phenotypic heterogeneity. Incomplete migration of melanocytes to the epidermis and other organs is the underlying feature of nevus of Ota. Vogt-Koyangi-Harada and vitiligo have an autoimmune etiology; the former is associated with considerable multiorgan involvement, while the latter is predominantly skin-limited.

Melanoma in skin of color in Connecticut: an analysis of melanoma incidence and stage at diagnosis in non-Hispanic blacks, non-Hispanic whites, and Hispanics.

BACKGROUND: The incidence of melanoma is increasing in Caucasians and in Hispanic subgroups in California and Florida. There is a paucity of information regarding melanoma incidence, stage at diagnosis, and other patient and tumor factors among minority subgroups in the northeast USA. This report examines melanoma in non-Hispanic white, non-Hispanic black, and Hispanic residents of Connecticut. METHODS: Trends in age-adjusted melanoma incidence rates (1992-2007) and the corresponding annual percentage changes in rates were calculated for Connecticut residents by race and Hispanic ethnicity. The racial/ethnic variation was evaluated for a number of patient and tumor characteristics: gender, age at diagnosis, marital status, anatomic site, histology, ulceration, Breslow thickness, and stage at diagnosis. Statistical significance at the 95% level was assessed using confidence intervals (95% CIs) and Pearson's chi-squared tests. RESULTS: Between 1992 and 2007, melanoma incidence increased by 4.1% per year in non-Hispanic whites in Connecticut (95% CI 3.1-5.1%; P<0.05). Melanoma incidence remained relatively stable for Hispanics and non-Hispanic blacks over the same period. A significantly higher proportion of advanced (regional and distant) melanomas were diagnosed in non-Hispanic blacks (19.1%) and Hispanics (17.1%) than in non-Hispanic whites (8.7%) (P<0.001). CONCLUSIONS: A significantly higher proportion of advanced melanomas were diagnosed in non-Hispanic blacks and Hispanics than in non-Hispanic whites. There is a growing need to educate patients and healthcare providers of the necessity for skin cancer surveillance regardless of the race of the patient.

The role of nutrition in dermatologic diseases: facts and controversies.

Many dermatologic diseases are chronic with no definitive cure. For some diseases, the etiology is not completely understood, with treatment being difficult and associated with side effects. In such cases, patients may try alternative treatments to prevent onset, reduce symptom severity, or prevent reoccurrence of a disease. Dietary modification, through supplementation and exclusion, is an extremely popular treatment modality for patients with dermatologic conditions. It is, therefore, important for dermatologists to be aware of the growing body of literature pertaining to nutrition and skin disease to appropriately inform patients on benefits and harms of specific dietary interventions. We address the role of nutrition in psoriasis, atopic dermatitis, urticaria, and bullous diseases and specific dietary modifications as an adjunct or alternative to conventional therapy.

Cutaneous simulants of infectious disease.

Many cutaneous conditions can mimic infection. If these lesions are not accurately recognized, they may be treated with antimicrobial agents, which adds cost, potential risk, and inconvenience to the patient and the healthcare system. The presenting signs and symptoms of many ulcerating, pustular, morbilliform, bullous, neoplastic, granulomatous, autoimmune, and neutrophilic conditions, as well as clinical vasculitis, cellulitis, folliculitis, and panniculitis, have been mistaken for infection. This review emphasizes the clinical presentation, physical exam, and diagnostic workup of many of these conditions to assist the clinician in ascertaining the correct diagnosis. In addition, general treatment options are provided for each disease category.

Nutrition and psoriasis.

Nutritional supplementation may provide a viable treatment alternative in patients with psoriasis. Randomized, controlled trials have shown the effectiveness of topical vitamin A and D derivatives, intravenous ω-3 fatty acids, oral inositol, and various combined therapies. Dual therapies of ultraviolet B phototherapy and fish oil, retinoids and thiazolidinediones, and cyclosporine and a low-calorie diet were effective in the treatment of psoriasis in randomized, controlled trials. This contribution also reviews the potential negative effect of alcohol and the potential positive effects of vitamin B(12), selenium, retinoic acid metabolism-blocking agents, and a gluten-free diet in the treatment of psoriasis.