Man with macrocephaly, learning disability and multiple basal cell carcinomas.
Tidsskr Nor Laegeforen
; 134(11): 1151-4, 2014 Jun 17.
Article
in En, Nor
| MEDLINE
| ID: mdl-24939783
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin Neoplasms
/
Basal Cell Nevus Syndrome
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Screening_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
/
Nor
Journal:
Tidsskr Nor Laegeforen
Year:
2014
Document type:
Article