Gorlin syndrome


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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
Farlex Partner Medical Dictionary © Farlex 2012

Gorlin Syndrome

Basal cell nevus syndrome, see there.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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).
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

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.
Medical Eponyms © Farlex 2012
References in periodicals archive ?
With no FDA-approved drugs currently available for Gorlin Syndrome, the standard of care is surgery.
Conservative treatment of recurrent ovarian fibromas in a young patient affected by Gorlin syndrome. Hum Reprod.
Based on these clinical and radiological findings, a diagnosis of Gorlin syndrome was made.
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.
This paper presents a case study of Gorlin Syndrome, also known as Basal Cell Nevus Syndrome, a rare genetic disorder characterized by widespread developmental defects.
Under the terms of the agreement, Leo Pharma has initially committed USD 70m comprised of equity financing and financial R and D support to fund the global Phase 3 trial for patidegib topical gel 2% for the prevention and treatment of Gorlin Syndrome, with Leo Pharma securing an option to acquire all shares in PellePharm.
Other predisposing factors are radiotherapy exposure, arsenic, albinism, burns, scars, immunosuppression and Gorlin syndrome. Sun exposed areas of skin (Face and hands) show small, well-circumscribed, pearly tan-grey papule devoid of scaly lesions enlarge with time and tend to ulcerate.
More recently, Smith et al (55) reported SUFU mutations in families with classic Gorlin syndrome, without odontogenic jaw keratocysts.
The patients had an average of 36 new BCCs or other tumors in the previous 2 years, and 70% were categorized as having moderate to severe BCNS (also known as Gorlin syndrome), as defined by more than 10 new BCCs during that time period.
Mum-of-three Linda Birkbeck has a nine-yearold boy, Xander, who has had a brain tumour in the past and has recently been diagnosed with Gorlin syndrome, which is a lifelimiting condition.