Dysplastic nevus syndrome.
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Biomedical subjects
Publications and source records attributed to R M Fusaro.
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Distinguishing cutaneous signs which are associated with hereditary cancer-prone syndromes are known as cancer-associated genodermatoses. Muir-Torre syndrome (M-T) is characterized by the occurrence of sebaceous hyperplasia, adenoma and carcinoma, basal cell carcinoma with sebaceous differentiation, and/or keratoacanthoma in association with visceral cancer (often multiple), and improved survival. Family studies of M-T have been either wholly lacking or too incomplete to elucidate hereditary aetiology. We describe the cutaneous phenotype of M-T in an extended kindred with a possible variant of the Cancer Family Syndrome. We emphasize the need for more thorough documentation of family histories and cancer association in this cancer-associated genodermatosis in order to clarify hereditary syndrome identification, and to improve cancer control through employment of cutaneous signs as a beacon for highly targeted forms of visceral cancer.
For almost two decades we have followed a kindred with the familial, atypical, multiple-mole melanoma (FAMMM) syndrome. We first evaluated the proband's 14-year-old daughter when she was age 5 years. We documented the evolution, both clinically and histologically, of the FAMMM phenotype in this girl for eight years.
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We present the first case report of onychomycosis in the United States caused by Trichosporon beigelii in a normal, healthy man. The fungus, which was demonstrated histologically in the nails, was isolated on three different occasions with multiple cultures obtained each time.
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This review provides a comprehensive coverage of hereditary malignant melanoma with emphasis upon its heterogeneity as well as newly developed biomarker investigations. The recently described familial atypical multiple mole melanoma (FAMMM) syndrome is featured. Particular attention has been given to findings of increased hyperdiploidy observed as an in vitro phenomenon in cultured skin fibroblasts from high-risk and FAMMM-affected subjects. The FAMMM genotype is complex in that it predisposes a patient not only to melanoma (cutaneous and intraocular malignant melanoma) but also to other histologic varieties of cancer, including cancer of the lung, pancreas, and breast. Attention is given to cancer surveillance and management programs for patients at increased risk for the several forms of hereditary malignant melanoma. This approach capitalizes advantageously upon employment of a knowledge of genetics and hereditary cancer syndrome identification, with particular attention to tumor associations.
This, to authors' knowledge, is the first report in the United States of Tinea pedis caused by Trichophyton violaceum in a recent Southeast Asian immigrant. Because of the recent entry into this country of refugees from an area of the world where T. violaceum is endemic, this anthropophilic dermatophyte may become a significant cause of dermatophytosis in the United States.
The familial atypical multiple mole-melanoma syndrome (FAMMM) is characterised by an autosomal dominantly inherited susceptibility to multiple atypical moles which show variable colouration ranging from black to brown, tan, red, or pink, with occasional variegation. These compound naevi may be macular or papular, with regular or irregular borders, and measure 1 cm or more in size. They may be few in number or absent or may exceed 100 in a given patient. They are located predominantly on areas not exposed to the sun. Dysplastic changes in melanocytes, fibroplasia, focal chronic inflammatory cell infiltrate, and new blood vessel formation of the papillary dermis characterise their histopathology. These findings are not uniformly present. Because of these distinctive features, coupled with their propensity for transformation to cutaneous malignant melanoma, little attention has been given to the possibility of either minimal or absent cutaneous expression of the phenotype or more diverse neoplastic involvement in this disease. These latter phenomena, which we ascribe to the pleiotropic effects of the cancer-prone FAMMM genotype, were observed in a single FAMMM kindred, the subject of this report.
Genetic analysis was performed on four kindreds with clinical and pathological verification of the FAMMM syndrome. There were 80 affected or at risk members in these families. A segregation ratio of 0.47 was observed, which is consistent with an autosomal dominant mode of inheritance. Three obligate gene carriers who lacked any FAMMM phenotypic manifestations were observed and the rate of penetrance for the FAMMM gene was calculated to be 0.93. Cancer at all anatomical sites (exclusive of cutaneous malignant melanoma and intraocular malignant melanoma) showed a five-fold increase (p less than 0.004) in risk for gene carriers when age corrected and compared to the population expectation. Although there was an apparent excess of carcinoma of the lung, pancreas, and breast, the number of family members studied with specific organ cancer was too small; therefore, a larger sample size will be needed to verify this apparent excess. Our findings warrant further investigation in additional FAMMM kindreds.
T cells and T-cell subsets were determined in the peripheral blood of 12 patients with Behçet's syndrome and 30 normal healthy control subjects. When compared with the control group, the mean percentage of T cells for the group with Behçet's syndrome was significantly decreased (73% v 61%). The mean percentage of T mu (helper) cells for the group with Behçet's syndrome (26%) was also significantly decreased from the mean value of the control group (42%). There was a concomitant significant increase of T gamma (suppressor) cells of the group with Behçet's syndrome (19%) over the mean value of the control group (10%). These results clearly indicated that there were alterations of T cells and T-cell subsets in this disease.
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