Department of Dermatology, National Skin Centre, Singapore.
Department of Dermatology, Henry Ford Hospital, Detroit, Michigan.
J Am Acad Dermatol. 2016 Nov;75(5):873-882. doi: 10.1016/j.jaad.2016.03.044.
Photodermatoses associated with defective DNA repair are a group of photosensitive hereditary skin disorders. In this review, we focus on diseases and syndromes with defective nucleotide excision repair that are not accompanied by an increased risk of cutaneous malignancies despite having photosensitivity. Specifically, the gene mutations and transcription defects, epidemiology, and clinical features of Cockayne syndrome, cerebro-oculo-facial-skeletal syndrome, ultraviolet-sensitive syndrome, and trichothiodystrophy will be discussed. These conditions may also have other extracutaneous involvement affecting the neurologic system and growth and development. Rigorous photoprotection remains an important component of the management of these inherited DNA repair-deficiency photodermatoses.
与 DNA 修复缺陷相关的光化性皮炎是一组遗传性光敏性皮肤疾病。在这篇综述中，我们重点讨论核苷酸切除修复缺陷但不伴有皮肤恶性肿瘤风险增加的疾病和综合征。具体而言，将讨论 Cockayne 综合征、Cerebro-Oculo-Facio-Skeletal 综合征、紫外线敏感综合征和先天性毛发硫营养不良症的基因突变和转录缺陷、流行病学和临床特征。这些疾病也可能有其他皮肤外表现，影响神经系统和生长发育。严格的光保护仍然是这些遗传性 DNA 修复缺陷性光化性皮炎的重要治疗组成部分。
