Meschia J F, Junkins E, Hofman K J
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Am J Med Genet. 1992 Nov 15;44(5):664-7. doi: 10.1002/ajmg.1320440527.
Epidermal nevi are typically congenital but rarely familial. We report on a family in which 3 relatives have systematized epidermal nevi. The propositus also has evidence of a hemangioma and a hemangioendothelioma. Peripheral blood and skin fibroblast karyotypes of the propositus did not show evidence of mosaicism. Epidermal nevi have been associated with nondermatologic pathology, involving the nervous, vascular, and skeletal systems in sporadic cases. This report demonstrates that nondermatologic pathology can be also be associated with systematized epidermal nevi in a familial setting. The apparent skipping of generations may be explained by autosomal dominant inheritance with decreased penetrance.
表皮痣通常为先天性，但很少有家族性。我们报告了一个家族，其中3名亲属患有系统性表皮痣。先证者还有血管瘤和血管内皮瘤的证据。先证者的外周血和皮肤成纤维细胞核型未显示出嵌合体的证据。在散发性病例中，表皮痣与非皮肤病学病理相关，涉及神经、血管和骨骼系统。本报告表明，在家族性情况下，非皮肤病学病理也可能与系统性表皮痣相关。明显的隔代遗传现象可能是由外显率降低的常染色体显性遗传来解释。
