Understanding photodermatoses associated with defective DNA repair: Photosensitive syndromes without associated cancer predisposition

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• 作者：Yik Weng Yew ; MBBS ; MPH^a ; Cerrene N. Giordano ; MD^b ; Graciela Spivak ; PhD^c ; Henry W. Lim ; MD^b ; ^{hlim1@hfhs.org" class="auth_mail" title="E-mail the corresponding author}
• 关键词：cerebro-oculo-facial-skeletal syndrome ; Cockayne syndrome ; nucleotide excision repair ; photodermatoses ; photosensitivity ; trichothiodystrophy ; UV-sensitive syndrome
• 刊名：Journal of the American Academy of Dermatology
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：75
• 期：5
• 页码：873-882
• 全文大小：1016 K

文摘

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.