遗传性光敏感性皮肤病

doi:10.35541/cjd.20210742

中华皮肤科杂志 ›› 2024, Vol. 57 ›› Issue (3): 279-282.doi: 10.35541/cjd.20210742

遗传性光敏感性皮肤病

陈玉沙汪盛

四川大学华西医院皮肤性病科，成都 610041

收稿日期:2021-10-12 修回日期:2022-03-19 发布日期:2024-03-04
通讯作者: 汪盛 E-mail:wangsheng1892@126.com
基金资助:
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）

Hereditary photosensitive dermatoses

Chen Yusha, Wang Sheng

Department of Dermatovenereology, West China Hospital, Sichuan University, Chengdu 610041, China

Received:2021-10-12 Revised:2022-03-19 Published:2024-03-04
Contact: Wang Sheng E-mail:wangsheng1892@126.com
Supported by:
Key Research and Development Projects of Sichuan Science and Technology Department（2020YFS0197）; Popularized Application Project of Health Commission of Sichuan Province（19PJ103）

摘要/Abstract

摘要： 【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。

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

Abstract: 【Abstract】 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.

Key words: Genetic disease, inborn, Hereditary photosensitive dermatoses, Sunlight exposure, Nervous system involvement, Malignant tumor risk

陈玉沙汪盛. 遗传性光敏感性皮肤病[J]. 中华皮肤科杂志, 2024,57(3):279-282. doi:10.35541/cjd.20210742

Chen Yusha, Wang Sheng. Hereditary photosensitive dermatoses[J]. Chinese Journal of Dermatology, 2024, 57(3): 279-282.doi:10.35541/cjd.20210742

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遗传性光敏感性皮肤病

Hereditary photosensitive dermatoses

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