Dr. Billingsley has served on an advisory board and will be participating in a clinical trial for Genentech, Inc.
Review Article Incentive Program Winner
“PTCH”-ing It Together: A Basal Cell Nevus Syndrome Review
Article first published online: 31 MAY 2013
© 2013 by the American Society for Dermatologic Surgery, Inc. Published by Wiley Periodicals, Inc.
Volume 39, Issue 11, pages 1557–1572, November 2013
How to Cite
Lam, C., Ou, J. C. and Billingsley, E. M. (2013), “PTCH”-ing It Together: A Basal Cell Nevus Syndrome Review. Dermatologic Surgery, 39: 1557–1572. doi: 10.1111/dsu.12241
- Issue published online: 6 NOV 2013
- Article first published online: 31 MAY 2013
Basal cell nevus syndrome (BCNS) has existed at least since Dynastic Egyptian times. In 1960, Gorlin and Goltz first described the classic clinical triad: multiple basal cell carcinomas (BCCs), jaw keratocysts, and bifid ribs. As an autosomal-dominant disorder, it is characterized by tumorigenesis and developmental defects.
To review the current literature on BCNS, including reports on epidemiology, pathogenesis, clinical presentation, diagnostic criteria, management, treatment, and prognosis.
A literature review of currently available articles related to BCNS.
Individuals with a mutation in the tumor suppressor gene PTCH1 are predisposed to tumorigenesis and developmental defects. Clinical features include BCCs, often with onset in adolescence, jaw keratocysts, bifid ribs, craniofacial defects, palmar-plantar pits, and ectopic intracranial calcification. Despite high cure rates for individual lesions and various treatment modalities including excision, Mohs micrographic surgery, photodynamic therapy, and topical imiquimod, management of BCCs is challenging. The development of an oral hedgehog pathway inhibitor, vismodegib, has added a new dimension to current treatment algorithms.
Adolescents and young adults with BCC should be evaluated for BCNS. Early diagnosis of BCNS is critical for possible prevention of the devastating effects of BCCs and establishment of multidisciplinary care.