| Literature DB >> 27745642 |
Yik Weng Yew1, Cerrene N Giordano2, Graciela Spivak3, Henry W Lim4.
Abstract
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.Entities:
Keywords: Cockayne syndrome; UV-sensitive syndrome; cerebro-oculo-facial-skeletal syndrome; nucleotide excision repair; photodermatoses; photosensitivity; trichothiodystrophy
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Year: 2016 PMID: 27745642 DOI: 10.1016/j.jaad.2016.03.044
Source DB: PubMed Journal: J Am Acad Dermatol ISSN: 0190-9622 Impact factor: 11.527