遗传性光敏感性皮肤病  

Hereditary photosensitive dermatoses

作　　者：陈玉沙 汪盛[1] Chen Yusha;Wang Sheng(Department of Dermatovenereology,West China Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西医院皮肤性病科,成都610041

出　　处：《中华皮肤科杂志》2024年第3期279-282,共4页Chinese Journal of Dermatology

基　　金：四川省科技计划重点研发项目(2020YFS0197);四川省卫生健康科研课题项目(19PJ103)。

摘　　要：遗传性光敏感性皮肤病包含一大类由于DNA核苷酸切除修复、DNA双链断裂修复或生化物质代谢等途径相关基因缺陷引起的疾病,皮肤光敏感常为首发症状。此类疾病往往合并严重的多器官系统受累,具有发病早、进展快、预后差的特点。作者综述遗传性光敏感性皮肤病临床特征和研究现状,提高临床医生的认识,帮助早期诊断和及时干预。Hereditary photosensitive dermatoses include a group of diseases caused by defects in genes related to DNA nucleotide excision repair,double-strand break repair and biochemical metabolism,and skin photosensitivity is often the initial symptom.These diseases are often accompanied by severe multiple organ involvement,and characterized by early onset,rapid progression and poor prognosis.This review summarizes clinical features of hereditary photosensitive dermatoses and their current research status,in order to improve clinicians′understanding and facilitate their early diagnosis and timely intervention.

关 键 词：遗传性疾病 先天性 遗传性光敏感性皮肤病 光暴露 神经系统受累 恶性肿瘤风险 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]