Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM).

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Abstract
The familial atypical multiple mole-melanoma syndrome (FAMMM) is characterized by an autosomal, dominantly inherited susceptibilty to multiple atypical moles which show variable coloration ranging from black to brown, tan, red, or pink, with occasional variegation. These compound nevi 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 in 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 characterize 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 was given to the possibility of either minimal or absent cutaneous expression of the phenotype or more diversive neoplastic involvement in this disease. These latter phenomena, which were ascribed to the pleiotropic effects of the cancer-prone FAMMM genotype, were observed in a single FAMMM kindred, the subject of this report.