title: Understanding photodermatoses associated with defective DNA repair: Photosensitive syndromes without associated cancer predisposition.
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.
authors.affiliation: Department of Dermatology, National Skin Centre, Singapore.
authors.forename: Yik Weng
authors.initials: YW
authors.lastname: Yew
authors.affiliation: Department of Dermatology, Henry Ford Hospital, Detroit, Michigan.
authors.forename: Cerrene N
authors.initials: CN
authors.lastname: Giordano
authors.affiliation: Department of Biology, Stanford University, Stanford, California.
authors.forename: Graciela
authors.initials: G
authors.lastname: Spivak
authors.affiliation: Department of Dermatology, Henry Ford Hospital, Detroit, Michigan. Electronic address: hlim1@hfhs.org.
authors.forename: Henry W
authors.initials: HW
authors.lastname: Lim
mesh_terms: D003057:Cockayne Syndrome / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D018736:DNA Adducts; D049914:DNA Repair-Deficiency Disorders / Q000453:epidemiology / Q000235:genetics*; D019468:Disease Management; D020022:Genetic Predisposition to Disease; D006801:Humans; D016296:Mutagenesis; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000235:genetics*; D012319:RNA Polymerase II / Q000378:metabolism; D011836:Radiation Tolerance / Q000235:genetics; D014158:Transcription, Genetic; D054463:Trichothiodystrophy Syndromes / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D014466:Ultraviolet Rays / Q000009:adverse effects; D014983:Xeroderma Pigmentosum / Q000235:genetics
chemical_list: D018736:DNA Adducts; D012319:RNA Polymerase II
keywords: Cockayne syndrome; UV-sensitive syndrome; cerebro-oculo-facial-skeletal syndrome; nucleotide excision repair; photodermatoses; photosensitivity; trichothiodystrophy