Genetic skin diseases predisposing to basal cell carcinoma

Eur J Dermatol. 2012 May-Jun;22(3):299-309. doi: 10.1684/ejd.2011.1633.


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.

Publication types

  • Review

MeSH terms

  • Basal Cell Nevus Syndrome / epidemiology
  • Basal Cell Nevus Syndrome / genetics
  • Carcinoma, Basal Cell / epidemiology
  • Carcinoma, Basal Cell / genetics*
  • Carcinoma, Skin Appendage / epidemiology
  • Carcinoma, Skin Appendage / genetics
  • Comorbidity
  • Cyanosis / epidemiology
  • Cyanosis / genetics
  • DNA Replication
  • Facial Dermatoses / epidemiology
  • Facial Dermatoses / genetics
  • Genetic Testing
  • Hamartoma Syndrome, Multiple / epidemiology
  • Hamartoma Syndrome, Multiple / genetics
  • Histiocytoma, Benign Fibrous / epidemiology
  • Histiocytoma, Benign Fibrous / genetics
  • Humans
  • Hypotrichosis / epidemiology
  • Hypotrichosis / genetics
  • Mutation
  • Nevus, Sebaceous of Jadassohn / epidemiology
  • Nevus, Sebaceous of Jadassohn / genetics
  • Rothmund-Thomson Syndrome / epidemiology
  • Rothmund-Thomson Syndrome / genetics
  • Skin Diseases, Genetic / epidemiology
  • Skin Diseases, Genetic / genetics*
  • Skin Neoplasms / epidemiology
  • Skin Neoplasms / genetics*
  • Werner Syndrome / epidemiology
  • Werner Syndrome / genetics
  • Xeroderma Pigmentosum / epidemiology
  • Xeroderma Pigmentosum / genetics

Supplementary concepts

  • Bazex-Dupre-Christol syndrome
  • Rombo syndrome