Gorlin

Gorlin is a surname. It is most commonly associated with Robert J. Gorlin, a dentist and medical geneticist who helped characterize a hereditary condition that bears his name.

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a genetic disorder marked by developmental abnormalities and a predisposition to multiple basal cell carcinomas. It is inherited in an autosomal dominant pattern, with pathogenic variants most often found in the PTCH1 gene; mutations in SUFU have been reported in some cases. Features typically emerge in adolescence or early adulthood and can include multiple jaw keratocysts, palmar and plantar pits, calcification of the falx cerebri, scoliosis or other skeletal anomalies, macrocephaly, and characteristic facial features. A subset of individuals, particularly those with SUFU-related NBCCS, may have an increased risk of certain brain tumors such as medulloblastoma.

Diagnosis relies on clinical criteria supported by genetic testing. Management centers on early detection and treatment of skin cancers, monitoring and removal of jaw cysts, and surveillance for skeletal and other anomalies. Regular dermatologic exams, dental evaluations, and appropriate imaging are typical components of care. The syndrome is considered rare, and prevalence varies by population.

Other uses: Gorlin syndrome is sometimes referred to as Gorlin-Goltz syndrome. The surname Gorlin may also refer to other individuals, but the medical condition is the best-known association.