摘要表皮松解性掌跖角化病是一种常染色体显性遗传性单基因病,以掌跖部对称性弥漫性角化过度为主要特征,其组织学特点为表皮松解性角化过度.目前已从分子水平上阐明表皮松解性掌跖角化病由角蛋白9及角蛋白1的基因突变引起.此外,环境及药物卡培他滨也可能为其致病因素.表皮松解性掌跖角化病主要以对症治疗为主,小干扰RNA的研究逐步成为热点,为表皮松解性掌跖角化病的基因治疗提供一定的理论基础.随着对此病分子基础的研究,产前诊断的技术正不断发展.

abstractsEpidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant monogenic disease characterized clinically by symmetrical diffuse palmoplantar hyperkeratosis,and histologically by epidermolytic hyperkeratosis.Recent studies have demonstrated that keratin-9 (KRT9) and keratin-1 (KRT1) gene mutations are responsible for EPPK.In addition,environment and capecitabine may also contribute to its occurrence.At present,EPPK is mainly managed with symptomatic treatment.Small interfering RNAs (siRNAs) have gradually become a research hotspot,which may provide a basis for gene therapy of EPPK.With further insights into the molecular basis of this disease,its prenatal diagnosis has advanced continuously.