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

Document Type

Article

Publication Date

11-1-2016

Publication Title

Journal of the American Academy of Dermatology

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.

Medical Subject Headings

Cockayne Syndrome; DNA Adducts; DNA Repair-Deficiency Disorders; Disease Management; Genetic Predisposition to Disease; Humans; Mutagenesis; Phenotype; Photosensitivity Disorders; RNA Polymerase II; Radiation Tolerance; Transcription, Genetic; Trichothiodystrophy Syndromes; Ultraviolet Rays; Xeroderma Pigmentosum

PubMed ID

27745642

Volume

75

Issue

5

First Page

873

Last Page

882

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