title: Man with macrocephaly, learning disability and multiple basal cell carcinomas.
abstract: Gorlin syndrome is a rare genetic condition in which patients may develop medulloblastomas, jaw cysts and basal cell carcinomas and show congenital skeletal malformations. If left undiagnosed, Gorlin syndrome can have a number of negative consequences. Early diagnosis and good follow-up is important for all patients with rare disorders. We wish to make doctors and dentists aware of Gorlin syndrome so that, whenever the syndrome is suspected or a patient has been diagnosed, the patient is referred for assessment, treatment and follow-up by specialists who know the disorder well. Dermatology departments at university hospitals and departments of medical genetics have a key role to play in assessment and follow-up. A national support group for Gorlin syndrome has been established, consisting of a dermatologist, oncologist, geneticist, paediatrician, specialist dentist, ophthalmologist, orthopaedic surgeon, plastic surgeon, oral and maxillofacial surgeon and counsellors. Patients, relatives and health professionals can contact the Centre for Rare Disorders directly for information about Gorlin syndrome, or to be put in touch with members of the group.
authors.affiliation: Senter for sjeldne diagnoser.
authors.forename: Charlotte
authors.initials: C
authors.lastname: von der Lippe
authors.affiliation: Avdeling for revmatologi, hud- og infeksjonssykdommer Oslo universitetssykehus, Rikshospitalet.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Roscher
authors.affiliation: TAKO-senteret Lovisenberg Diakonale Sykehus.
authors.forename: Hilde
authors.initials: H
authors.lastname: Nordgarden
authors.affiliation: Avdeling for medisinsk genetikk Oslo universitetssykehus, Rikshospitalet.
authors.forename: Cecilie
authors.initials: C
authors.lastname: Rustad
authors.affiliation: Seksjon for nevrohabilitering - barn Barneavdeling for nevrofag Oslo universitetssykehus.
authors.forename: Selma Mujezinovic
authors.initials: SM
authors.lastname: Larsen
authors.affiliation: Avdeling for kjeve- og ansiktskirurgi Oslo universitetssykehus, Ullevål.
authors.forename: Even
authors.initials: E
authors.lastname: Mjøen
authors.affiliation: Avdeling for kreftbehandling Oslo universitetssykehus, Radiumhospitalet.
authors.forename: Åse
authors.initials: Å
authors.lastname: Bratland
mesh_terms: D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007859:Learning Disabilities / Q000209:etiology; D008297:Male; D058627:Megalencephaly / Q000209:etiology; D009807:Odontogenic Cysts / Q000000981:diagnostic imaging / Q000209:etiology; D011859:Radiography; D035583:Rare Diseases / Q000150:complications / Q000175:diagnosis / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000473:pathology