遗传性对称性色素异常症

Dyschromatosis Symmetrica Hereditaria

遗传性对称性色素异常症是一种较为罕见的常染色体显性遗传病,皮损表现为手足伸侧对称分布的色素沉着斑及色素减退斑。致病基因为位于1q21.3的ADAR1基因。本病发病机制不明,已有研究着重探索基因型与表型之间的关联以及影响疾病发生发展的调控因素。本病应与遗传性泛发性色素异常症、着色性干皮病、白癜风、北村网状肢端色素沉着症等疾病相鉴别。本病尚无特异性疗法,皮瓣移植、CO2点阵激光、308 nm准分子激光在个案报道中有效。

Dyschromatosis symmetrica hereditaria is a rare hereditary disease with the pattern of autosomal dominant inheritance.Intermingled hyper pigmented and hypo pigmented macules distribute symmetrically on the dorsal aspects of the hands and feet.The causative gene of the disease is ADAR1 mapping to chromosome 1 q21.3.The exact molecular pathogenesis is not yet clear and most of the current research has been conducing upon the correlation between genotypes and phenotypes together with the coordinating factors.Dyschromatosis symmetrica hereditaria should be distinguished from dyschromatosis universalis hereditaria,xeroderma pigmentosa,reticularis acropigmentatio of kitamura,vitiligo,etc.There have not specific treatments for the disease till now.Flap transplantation,CO2 lattice laser and 308 nm excimer laser have been proved to be effective in several case reports.