遗传性泛发性色素异常症7例及家系调查

Dyschromatosis universalis hereditaria:a family pedigree report

报告1例遗传性泛发性皮肤色素异常症及家系调查。患者男,18岁。因全身皮肤色素沉着伴色素减退18年就诊。头面部、躯干、四肢和手足背面弥漫性密集分布褐色色素沉着斑,其间夹杂大量色素脱失斑,牙龈和足跖部少量褐色色素沉着斑。色素沉着处组织病理检查示基底层色素增加,黑素细胞数目正常;色素减退处组织病理检查示基底层色素减少,黑素细胞数目亦正常。

A case of dyschromatosis universalis hereditaria （DUH） and the investigated pedigree are reported. An 18-year-old male was presented with generalized hyper- and hypo-pigmented skin lesions for eighteen years. Physical examination showed diffusely distributed brownish pigmentation patches on his face, trunk, extremities, and the dorsal of hands and feet, interspersed with a large number of hypo-pigmented spots. Some slight brownish hyperpigmented patches distributed on his gingiva and sole. The specimens biopsied from pigmentation patches demonstrated increased basal pigmentation, and the histopathology of hypo-pigmented spots showed reduced pigmentation in basal layer. The numbers of melanocytes are normal in both hyper-pigmented and hypo-pigmented macules.