title: Basal cell naevus syndrome: an update on genetics and treatment.
abstract: Basal cell naevus syndrome is an autosomal dominant disorder that stems from mutations in multiple genes, most commonly patched 1 (PTCH1). The classic triad of symptoms consists of basal cell carcinomas, jaw keratocysts and cerebral calcifications, although there are many other systemic manifestations. Because of the broad range of symptoms and development of several types of tumours, early diagnosis and close monitoring are essential to preserve quality of life. Targeting treatment is often difficult because of tumour prevalence. Newer inhibitors of the hedgehog signalling pathway and proteins involved in proliferative growth have shown therapeutic promise. In addition, preventive medications are being devised. We propose a method for determining appropriate treatment for cutaneous tumours.
authors.affiliation: Department of Dermatology, Rutgers New Jersey Medical School, Newark, NJ, 07103, U.S.A.
authors.forename: A M
authors.initials: AM
authors.lastname: John
authors.affiliation: Department of Dermatology, Rutgers New Jersey Medical School, Newark, NJ, 07103, U.S.A.|Rutgers University School of Public Affairs and Administration, Newark, NJ, U.S.A.
authors.forename: R A
authors.initials: RA
authors.lastname: Schwartz
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D001478:Basal Cell Nevus Syndrome / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D003937:Diagnosis, Differential; D053823:Hedgehog Proteins / Q000037:antagonists & inhibitors; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009362:Neoplasm Metastasis; D000072082:Patched-2 Receptor / Q000235:genetics; D010778:Photochemotherapy / Q000379:methods; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D016896:Treatment Outcome
chemical_list: D000970:Antineoplastic Agents; D053823:Hedgehog Proteins; C000606238:PTCH2 protein, human; D000072082:Patched-2 Receptor; C509239:SHH protein, human