title: Basal cell nevus syndrome: clinical and molecular review and case report.
abstract: Basal cell nevus syndrome (BCNS), also referred to as nevoid basal cell carcinoma syndrome or Gorlin-Goltz syndrome, was first described by Gorlin and Goltz in 1960 as an autosomal dominant disorder characterized by the early appearance of multiple basal cell carcinomas (BCCs), keratocysts of the jaw, ectopic calcifications, palmar and plantar pits, and anomalies of the ocular, skeletal, and reproductive systems. The genesis of this cancer's etiology in relation to BCNS was unclear until a few years ago when molecular analysis studies suggested a relationship between BCC and the loss-of-function mutations of the patched gene (PTCH) found on chromosome arm 9q. PTCH inhibits signaling by the membrane protein Smoothened (Smo), and this inhibition is relieved by binding sonic hedgehog (SHH) to PTCH. We describe a patient with multiple BCCs associated with x-ray anomalies of BCNS and review the basis of the SHH signaling pathway and clinical aspects of BCNS.
authors.affiliation: Department of Dermatology, Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Livia Cristina de Melo
authors.initials: LC
authors.lastname: Pino
authors.affiliation: Department of Dermatology, Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Laila Klotz de Almeida
authors.initials: LK
authors.lastname: Balassiano
authors.affiliation: Department of Dermatology, Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Marlene
authors.initials: M
authors.lastname: Sessim
authors.affiliation: Department of Dermatology, Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Ana Paula Moura
authors.initials: AP
authors.lastname: de Almeida
authors.affiliation: Department of Dermatology, Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Vinicius Dequech
authors.initials: VD
authors.lastname: Empinotti
authors.affiliation: Department of Dermatology, Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Ivan
authors.initials: I
authors.lastname: Semenovitch
authors.affiliation: Department of Dermatology, Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Curt
authors.initials: C
authors.lastname: Treu
authors.affiliation: Department of Dermatology, Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.|Department of Dermatology, Universidade Federal do Estado do Rio de Janeiro (Unirio), Rio de Janeiro, RJ, Brazil.|Department of Dermatology, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
authors.forename: Omar
authors.initials: O
authors.lastname: Lupi
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D053823:Hedgehog Proteins / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D000072081:Patched-1 Receptor / Q000235:genetics / Q000378:metabolism*; D015398:Signal Transduction; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D000072086:Smoothened Receptor / Q000378:metabolism
chemical_list: D053823:Hedgehog Proteins; C000606236:PTCH1 protein, human; D000072081:Patched-1 Receptor; D000072086:Smoothened Receptor