Gorlin syndrome


Also found in: Dictionary, Thesaurus, Encyclopedia, Wikipedia.
Related to Gorlin syndrome: Gardner syndrome

ba·sal cell ne·vus syn·drome

[MIM*109400]
a syndrome of myriad basal cell nevi with development of basal cell carcinomas in adult life, odontogenic keratocysts, erythematous pitting of the palms and soles, calcification of the cerebral falx, and frequently skeletal anomalies, particularly ribs that are bifid or broadened anteriorly; autosomal dominant inheritance, caused by mutation in the PTCH gene, the huma n homol ogue o f the "patched" gene of Drosophila on 9q.
Synonym(s): Gorlin syndrome

Gorlin Syndrome

Basal cell nevus syndrome, see there.

ba·sal cell ne·vus syn·drome

(bā'săl sel nē'vŭs sin'drōm)
A syndrome of numerous basal cell nevi with development of basal cell carcinomas in adult life, odontogenic keratocysts, erythematous pitting of the palms and soles, calcification of the cerebral falx, and frequently skeletal anomalies, particularly ribs that are bifid or broadened anteriorly; autosomal dominant inheritance.
Synonym(s): Gorlin syndrome.

Gorlin syndrome

A rare autosomal dominant genetic disorder featuring a strong predisposition to various tumours, especially multiple BASAL CELL CARCINOMAS; brain tumours; ovarian FIBROIDS; multiple cysts in the jawbone (mandible); MILIA; and skull and rib abnormalities. Thousands of skin tumours may be present. The condition is believed to be due to a mutation on chromosome 9 affecting tumour suppressor genes. (American oral pathologist Robert J. Gorlin, b. 1923).

Gorlin,

Robert James, U.S. oral pathologist, 1923–.
Gorlin sign - unusual ease in touching the tip of the nose with the tongue.
Gorlin syndrome - a syndrome of myriad basal cell nevi with development of basal cell carcinomas in adult life. Synonym(s): basal cell nevus syndrome
Gorlin-Chaudhry-Moss syndrome - craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of the labia majora, and dental and ocular abnormalities.
References in periodicals archive ?
Ovarian preservation was mostly reported in younger patients and accompanied with Gorlin syndrome, which is present mostly with multiple and recurrent fibromas (8-10).
Gorlin syndrome affects one in 30,000 people in the UK and can mean sufferers needing repeated surgery to remove skin tumours from their body or cysts from the jaw.
Based on these clinical and radiological findings, a diagnosis of Gorlin syndrome was made.
Epstein and his collaborators at this year's AACR conference demonstrate proof-of-concept for the therapeutic utility of vismodegib for BCC in Gorlin syndrome patients, for whom no pharmacological standard of care intervention is approved," said Daniel Passeri, Curis' President and Chief Executive Officer.
Gorlin syndrome is a condition that affects many areas of the body and increases the risk of developing BCC.
Dr Ellis suspected he had gorlin syndrome, a rare condition caused by the genetic mutation of a single gene which affects one in 64,000 people and can lead to skin cancers and cysts in the jaw bone of sufferers.
Also known as Gorlin syndrome, its symptoms include cysts in the jaw, extra fingers and abnormal ribs and vertebrae, as well as hundreds of skin tumors.