Gorlin syndrome

Also known as: Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome

Multiple basal cell carcinomas, jaw keratocysts and skeletal anomalies.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, features begin in childhood
Gene(s) involved: PTCH1, PTCH2, SUFU

Etiology & mechanism

Hedgehog pathway activation from loss of the tumor suppressor PTCH1.

Gene(s) involved (3)

PTCH1PTCH2SUFU

Symptoms & signs (7)

basal cell carcinomasbifid ribsfalx calcificationmacrocephalymedulloblastomaodontogenic keratocystspalmar pits

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.