Goldstein A M, Pastakia B, DiGiovanna J J, Poliak S, Santucci S, Kase R, Bale A E, Bale S J
Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892.
Am J Med Genet. 1994 Apr 15;50(3):272-81. doi: 10.1002/ajmg.1320500311.
The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder with variable expressivity. We present the clinical findings on 11 African-American NBCC cases from 2 families and a review of the literature of NBCC in African-Americans. The 2 new families, as well as those previously reported, suggest minimal expression of the basal cell carcinomas and full expression of the other components 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 cerebri. Only 44% (4/11) of these cases had one or more confirmed basal cell carcinomas. This frequency is substantially less than that observed in whites (90% with basal cell carcinomas). The relative lack of these skin tumors in African-Americans partly reflects ultraviolet radiation protection resulting from increased skin pigmentation. Future research should help identify the specific mutation(s) in blacks as well as other modifying genes and environmental exposures that may contribute to the varied manifestations of the syndrome.
痣样基底细胞癌综合征（NBCC）是一种常染色体显性多系统疾病，具有可变的表现度。我们展示了来自2个家族的11例非裔美国NBCC患者的临床发现，并对非裔美国人NBCC的文献进行了综述。这2个新家族以及先前报道的家族表明，基底细胞癌的表现轻微，而综合征的其他成分表现完全。这11例患者中最常见的3个表现是颌骨囊肿、掌跖凹陷和大脑镰钙化。这些病例中只有44%（4/11）有一个或多个确诊的基底细胞癌。这个频率远低于在白人中观察到的频率（90%有基底细胞癌）。非裔美国人中这些皮肤肿瘤相对较少，部分反映了皮肤色素沉着增加带来的紫外线辐射防护作用。未来的研究应有助于确定黑人中的特定突变以及其他可能导致该综合征表现多样的修饰基因和环境暴露因素。
