The following constellation of traits constitutes the familial dysplastic nevus syndrome: (1) a distinctive clinical appearance of abnormal melanocytic nevi1-3; (2) unique histologic features, including an abnormal architectural pattern of intraepidermal melanocytes, cytologically atypical intraepidermal melanocytes, connective tissue changes, and a lymphocytic infiltrate4,5; (3) an autosomal dominant inheritance, possibly linked to a susceptibility gene on the short arm of chromosome 1 near the Rh locus6; and (4) hypermutability of fibroblasts and lymphoblasts. (Fibroblasts and lymphoblasts from patients with the dysplastic nevus syndrome and hereditary cutaneous melanoma are abnormally sensitive to ultraviolet radiation damage, simulated sunlight, and exposure to 4-nitroquinoline-1-oxide.7,8 Their fibroblasts are also hypersensitive to G2 chromatid radiation damage.9)
The syndrome is, in all likelihood, one of the hypermutability disorders. The familial dysplastic nevus syndrome is presently recognized by its clinical and histologic features, but, in due course, it may
Clark WH. The Dysplastic Nevus Syndrome. Arch Dermatol. 1988;124(8):1207–1210. doi:10.1001/archderm.1988.01670080019010
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