Gorlin syndrome


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Related to Gorlin syndrome: Gardner syndrome

Gorlin syndrome

(ˈɡɔːlɪn)
n
1. (Pathology) a rare congenital disorder in which cancer destroys the facial skin and causes blindness; skeletal anomalies and some mental retardation can also occur
2. (Medicine) a rare congenital disorder in which cancer destroys the facial skin and causes blindness; skeletal anomalies and some mental retardation can also occur
[C20: named after R. J. Gorlin (1923–2006), US oral pathologist]
References in periodicals archive ?
The US Food and Drug Administration has granted both Breakthrough Therapy Designation and Orphan Drug Designation to US-based clinical-stage biopharmaceutical company PellePharm for topical patidegib for reduction of the life-long serious clinical morbidity and disease burden of persistently developing basal cell carcinomas in patients with Basal Cell Carcinoma Nevus Syndrome (BCCNS), a rare genetic disease also known as Gorlin Syndrome, the company said.
Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review.
More recently, Smith et al (55) reported SUFU mutations in families with classic Gorlin syndrome, without odontogenic jaw keratocysts.
Gorlin syndrome is a rare autosomal dominant disorder caused mainly by mutations in the PTCH1 gene.
Other multiple BCC syndromes include Gorlin syndrome and Rombo syndrome.
Gorlin Syndrome with Bilateral Polydactyly: A Rare.
9-11 Part of the information on the molecular pathways related to me-dulloblastoma comes from the study of two syndromes associated with a constitutional predisposition to me-dulloblastoma " Gorlin syndrome and Turcot synd-rome.
During the operation to have it removed, Xander, suffered two strokes and has since been diagnosed with gorlin syndrome, autism and epilepsy.
Bifid rib is considered as one of the major criteria for Gorlin syndrome (12).
Although rare, ovarian fibroma has been reported in young people too, in which the possibility of Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, must be considered (8-10).
Gorlin syndrome or basal cell nevus syndrome (BCNS): A case report.