CLINICAL FINDINGS IN 2 AFRICAN-AMERICAN FAMILIES WITH THE NEVOID BASAL-CELL CARCINOMA SYNDROME (NBCC)

The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal domina nt multi-system disorder with variable expressivity. We present the cl inical findings on 11 African-American NBCC cases from 2 families and a review of the literature of NBCC in African-Americans. The 2 new fam ilies, as well as those previously reported, suggest minimal expressio n of the basal cell carcinomas and full expression of the other compon ents of the syndrome. The 3 most common findings in the 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx c erebri. Only 44% (4/11) of these cases had one or more confirmed basal cell carcinomas. This frequency is substantially less than that obser ved in whites (90% with basal cell carcinomas). The relative lack of t hese skin tumors in African-Americans partly reflects ultraviolet radi ation protection resulting from increased skin pigmentation. Future re search should help identify the specific mutation(s) in blacks as well as other modifying genes and environmental exposures that may contrib ute to the varied manifestations of the syndrome. (C) 1994 Wiley-Liss, Inc.