摘要斑驳病是一种少见的先天性常染色体显性遗传性疾病.其显著的临床特征是额前中线见三角形或钻石形白发及白斑.白斑内黑素细胞缺失.目前研究表明,胚胎发育时黑素细胞迁移、繁殖障碍与基因突变相关,KIT基因突变是斑驳病的致病基因,KIT基因突变引起斑驳病的临床表型轻重有很大差异.概述KIT基因突变的位点与临床表型轻重的关系.

abstractsPiebaldism is a rare autosomal dominant disorder characterized by congenital triangle or diamond poliosis and white patches on the forehead.Epidermal melanocytes are usually absent in the affected skin.It has been reported that the differentiation and migration of melanoblasts are associated with gene mutations,and KIT gene is a causative gene of piebaldism.Clinical manifestations and phenotypic severity of piebaldism strongly correlate with the sites of KIT gene mutation.This review presents the relationship between clinical phenotypes of piebaldism and sites of KIT gene mutation.