title: Manifestations of Gorlin-Goltz syndrome.
abstract: BACKGROUND
  Gorlin-Goltz syndrome is an uncommon hereditary condition caused by mutations in the PTCH1 gene causing a wide range of developmental abnormalities. Multiple basal cell carcinomas, palmoplantar pits and jaw cysts are cardinal features. Many clinicians are unfamiliar with the different manifestations and the fact that patients are especially sensitive to ionizing radiation.
  
  
  METHODS
  This was a retrospective analysis of patients with Gorlin-Goltz syndrome seen at the Department of Dermatology and Allergy Centre or at Department of Plastic Surgery, Odense University Hospital, Denmark, in the period from 1994 to 2013.
  
  
  RESULTS
  A total of 17 patients from eight families fulfilled the diagnostic criteria. In all, 14 patients had basal cell carcinomas, 12 patients had jaw cysts and ten patients had calcification of the falx cerebri. Other clinical features were frontal bossing, kyphoscoliosis, rib anomalies, coalitio, cleft lip/palate, eye anomalies, milia and syndactyly. In one family, medulloblastoma and astrocytoma occurred. Traditional treatment principles of basal cell carcinomas were used including radiotherapy performed in six patients. PTCH1 mutations were identified in five families and none of these mutations had previously been described.
  
  
  CONCLUSIONS
  The patient cohort illustrates classic and rare disease manifestations. It is necessary to remind clinicians that radiation therapy in Gorlin-Goltz syndrome is relatively contraindicated. Today, mutation analysis can be used for confirmation of the diagnosis and for predictive genetic testing. Patients should be offered genetic counselling and life-long surveillance.
  
  
  BACKGROUND
  not relevant.
  
  
  BACKGROUND
  not relevant.
authors.forename: Anne Kristine
authors.initials: AK
authors.lastname: Larsen
authors.forename: Dorthe Bisgaard
authors.initials: DB
authors.lastname: Mikkelsen
authors.forename: Jens Michael
authors.initials: JM
authors.lastname: Hertz
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
mesh_terms: D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D002114:Calcinosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D012189:Retrospective Studies; D012878:Skin Neoplasms / Q000628:therapy*; D013116:Spinal Cord / Q000473:pathology*; D055815:Young Adult
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface