title: [Gorlin-Goltz syndrome: review of the neuroradiological and maxillofacial features illustrated with two clinical cases].
abstract: BACKGROUND
  Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary autosomal-dominant disorder characterized by multiple basal cell carcinomas in young patients, odontogenic keratocysts, palmar or plantar pits, calcification of the falx cerebri and skeletal malformations. This syndrome is due to mutations in PTCH1 (patched homolog 1 da Drosophila), a tumor suppressor gene. Diagnostic criteria were defined by Evans, revised by Kimonis and include major and minor criteria. The authors review in particular the neuroradiological and maxillofacial characteristics of the syndrome.
  
  
  METHODS
  The authors describe the clinical presentation of two children with Gorlin-Goltz syndrome without affected first degree relatives. In both the clinical suspicion of the syndrome is raised by the presence of multiple odontogenic cysts surgically removed. Histopathological exam revealed keratocysts. None of the patients has basal cell carcinomas but both present with skeletal anomalies, namely marked pectus deformity.
  
  
  CONCLUSIONS
  The absence of major diagnostic criteria like basal cell carcinomas or palmar or plantar pits in young patients delay the early diagnosis and the correct screening for medulloblastoma, basal cell carcinomas and cardiac fibromas. Odontogenic keratocysts are the most consistent clinical finding in Gorlin-Goltz syndrome in the first one or two decades of life. These patients are very sensitive to ionizing radiation, being able to develop basal cell carcinomas and meningiomas. Treatment should accomplish the complete resection of the tumors.
authors.affiliation: Serviços de Neurorradiologia, Cirurgia Maxilofacial, Anatomia Patológica e Serviço de Dermatologia, Hospital Pedro Hispano, Matosinhos.
authors.forename: Marta Maia
authors.initials: MM
authors.lastname: Safronova
authors.forename: Mavilde
authors.initials: M
authors.lastname: Arantes
authors.forename: Iva
authors.initials: I
authors.lastname: Lima
authors.forename: Sara
authors.initials: S
authors.lastname: Domingues
authors.forename: Marta
authors.initials: M
authors.lastname: Almeida
authors.forename: Pedro
authors.initials: P
authors.lastname: Moniz
mesh_terms: D000293:Adolescent; D001478:Basal Cell Nevus Syndrome / Q000000981:diagnostic imaging*; D001932:Brain Neoplasms / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D008297:Male; D008441:Maxillary Neoplasms / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed