The Dysplastic Nevus Syndrome

Abstract

The following constellation of traits constitutes the familial dysplastic nevus syndrome: (1) a distinctive clinical appearance of abnormal melanocytic nevi 1-3 ; (2) unique histologic features, including an abnormal architectural pattern of intraepidermal melanocytes, cytologically atypical intraepidermal melanocytes, connective tissue changes, and a lymphocytic infiltrate 4,5 ; (3) an autosomal dominant inheritance, possibly linked to a susceptibility gene on the short arm of chromosome 1 near the Rh locus 6 ; 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 G 2 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