title: "PTCH"-ing it together: a basal cell nevus syndrome review.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  To review the current literature on BCNS, including reports on epidemiology, pathogenesis, clinical presentation, diagnostic criteria, management, treatment, and prognosis.
  
  
  METHODS
  A literature review of currently available articles related to BCNS.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Dermatology, The Milton S. Hershey Medical Center, College of Medicine, Pennsylvania State University, Hershey, Pennsylvania.
authors.forename: Charlene
authors.initials: C
authors.lastname: Lam
authors.forename: Jason C
authors.initials: JC
authors.lastname: Ou
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Billingsley
mesh_terms: D000813:Anilides / Q000009:adverse effects / Q000627:therapeutic use; D000964:Antimetabolites, Antineoplastic / Q000008:administration & dosage; D000970:Antineoplastic Agents / Q000009:adverse effects / Q000627:therapeutic use; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000401:mortality / Q000628:therapy; D003131:Combined Modality Therapy; D005472:Fluorouracil / Q000008:administration & dosage; D016147:Genes, Tumor Suppressor / Q000502:physiology; D018095:Germ-Line Mutation; D006801:Humans; D053685:Laser Therapy; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010778:Photochemotherapy; D011379:Prognosis; D011725:Pyridines / Q000009:adverse effects / Q000627:therapeutic use; D011956:Receptors, Cell Surface / Q000235:genetics; D012878:Skin Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000401:mortality / Q000601:surgery
chemical_list: D000813:Anilides; D000964:Antimetabolites, Antineoplastic; D000970:Antineoplastic Agents; C538724:HhAntag691; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011725:Pyridines; D011956:Receptors, Cell Surface; D005472:Fluorouracil