title: Genetic skin diseases predisposing to basal cell carcinoma.
abstract: Basal cell carcinoma (BCC) is the commonest cancer in humans. Predisposing factors reflect common genetic variations and environmental influences in most cases. However, an underlying Mendelian disorder should be suspected in a specific subset of patients, namely those with multiple, early onset lesions. Some specific conditions, including Gorlin, Bazex-Dupré-Christol and Rombo syndromes, and Xeroderma Pigmentosum, show BCC as a prominent feature. In addition, BCC may represent a relatively common, although less specific, finding in many other genodermatoses. These include disorders of DNA replication/repair functions (Bloom, Werner, Rothmund-Thomson and Muir-Torre syndromes), genodermatoses affecting the folliculo-sebaceus unit (Brooke-Spiegler, Schöpf-Schulz-Passarge and Cowden syndromes), immune response (cartilage-hair hypoplasia and epidermodysplasia verruciformis) and melanin biosynthesis (oculocutaneous albinism and Hermansky-Pudlak syndrome), and some epidermal nevus syndromes. Further conditions occasionally associated with BCCs exist, but the significance of the association remains to be proven.
authors.affiliation: Department of Molecular Medicine, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Aldo
authors.initials: A
authors.lastname: Morrone
authors.forename: Jean
authors.initials: J
authors.lastname: Kanitakis
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000453:epidemiology / Q000235:genetics; D002280:Basal Cell Carcinoma / Q000453:epidemiology / Q000235:genetics*; D018280:Carcinoma, Skin Appendage / Q000453:epidemiology / Q000235:genetics; D015897:Comorbidity; D003490:Cyanosis / Q000453:epidemiology / Q000235:genetics; D004261:DNA Replication; D005148:Facial Dermatoses / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing; D006223:Hamartoma Syndrome, Multiple / Q000453:epidemiology / Q000235:genetics; D018219:Histiocytoma, Benign Fibrous / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007039:Hypotrichosis / Q000453:epidemiology / Q000235:genetics; D009154:Mutation; D054000:Nevus, Sebaceous of Jadassohn / Q000453:epidemiology / Q000235:genetics; D011038:Rothmund-Thomson Syndrome / Q000453:epidemiology / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000453:epidemiology / Q000235:genetics*; D012878:Skin Neoplasms / Q000453:epidemiology / Q000235:genetics*; D014898:Werner Syndrome / Q000453:epidemiology / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000453:epidemiology / Q000235:genetics