着色性干皮病诊疗进展

Progress in Diagonosis and Treatment of Xeroderma Pigmentosum

着色性干皮病是罕见的遗传性疾病,目前仍缺少治愈的方法。着色性干皮病患者由于基因突变,无法修复紫外线照射造成的DNA损伤,患者皮肤具有光敏感性,而且光照部位极易在幼年发展成多种类型的皮肤癌。本文针对着色性干皮病的发病机理,诊断,治疗等进行综述。

Xeroderma pigmentosum(XP)is among the rare genetic disorders remaining without any cure.XP patients bear mutations in genes,which responsible for the repair of DNA damage caused by UV irradiation.XP patients undergo severe photo sensitivity and a high susceptibility toward numerous skin cancer at very much earlier ages than in the generation population.This article reviews the mechanism,diagnosis,research status and the progress of therapy in XP.