Understanding photodermatoses associated with defective DNA repair : Photosensitive syndromes without associated cancer predisposition - 15/10/16
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.
Le texte complet de cet article est disponible en PDF.Key words : cerebro-oculo-facial-skeletal syndrome, Cockayne syndrome, nucleotide excision repair, photodermatoses, photosensitivity, trichothiodystrophy, UV-sensitive syndrome
Abbreviations used : 6-4PP, COFS, CS, CPD, ERCC, NER, RNAP, TCR, TFIIS, TTD, UV, UVSS, XP
Plan
Funding sources: None. |
|
Conflicts of interest: None declared. |
|
Date of release: November 2016 |
|
Expiration date: November 2019 |
Vol 75 - N° 5
P. 873-882 - novembre 2016 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?