Understanding photodermatoses associated with defective DNA repair : Syndromes with cancer predisposition - 15/10/16
Abstract |
Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund–Thomson syndrome. The typical phenotypic findings of each disorder will be examined and contrasted, including noncutaneous identifiers to aid in diagnosis. The management of these patients will also be discussed. At this time, the mainstay of therapy remains strict photoprotection; however, genetic therapies are under investigation.
Le texte complet de cet article est disponible en PDF.Key words : Bloom syndrome, carcinogenic syndrome, nucleotide excision repair, photodermatoses, photosensitivity, Rothmund–Thomson, xeroderma pigmentosum
Abbreviations used : 6-4PP, BCC, BER, CPD, DSC, ERCC, NER, PCNA, ROS, RECQL, RTS, SCC, TCR, UV, XP
Plan
Funding sources: None. |
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Conflicts of interest: None declared. |
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Date of release: November 2016 |
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Expiration date: November 2019 |
Vol 75 - N° 5
P. 855-870 - novembre 2016 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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