Nonmelanoma skin cancers (NMSCs) represent the most common malignancies worldwide, with reported incidence rising each year. Both cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), as well as other NMSCs, represent complex diseases with a combination of environmental and genetic risk factors. In general, hereditary cancer syndromes that increase the risk of NMSC fall under several broad categories: those associated with immunodeficiencies, those that affect skin pigmentation, and those that perturb key molecular pathways involved in the pathogenesis of NMSCs. Many of the syndromes are also associated with extracutaneous manifestations, including internal malignancies; therefore, most require a multidisciplinary management approach with a medical geneticist. Finally, dermatologists play a critical role in the diagnosis and management of these conditions, because cutaneous findings are often the presenting manifestations of disease.Le texte complet de cet article est disponible en PDF.
Key words : Bloom syndrome, dyskeratosis congenita, genetic testing, Gorlin syndrome, Muir–Torre syndrome, nonmelanoma skin cancer, oculocutaneous albinism, Rothmund–Thomson syndrome, Werner syndrome
Abbreviations used : 5-FU, ADA1, ADA-SCID, BCC, BCNS, BDCS, BLM/RECQL3, C10Orf11, C16Orf57, DFSP, DC, EV, EVER1, EVER2, HNPCC, HPV, IHC, MSI, MMR, MTS, MSSE, MLH1, MSH2, MSH6, NK, NMSC, OCA, OCA2, PTCH1, PTCH2, PMS2, RECQL4, RTS, SMO, SLC24A5, SLC45A2, SHH, SCC, SUFU, TGFBR1, TYR, TYRP1, UVR, WRN/RECQL2, XP
| Supported by a Stanford University Medical Scholars Research Fellowship (Ms Jaju) and the Howard Hughes Medical Institute (Ms Ransohoff).
| Conflicts of interest: None declared.
| Date of release: March 2016
| Expiration date: March 2019