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Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas, odontogenic keratocysts, and various skeletal, craniofacial, and CNS anomalies. It is caused by mutations affecting the Hedgehog signaling pathway.

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https://youtu.be/HBbJG3RQaNk

Pathogenesis

Genetic basis:

Caused by germline mutations in the PTCH1 gene (chromosome 9q22.3), a tumor suppressor in the Hedgehog pathway
Less commonly: mutations in PTCH2 or SUFU
Autosomal dominant inheritance with high penetrance and variable expressivity

Clinical Features

Major diagnostic criteria (need ≥2 for diagnosis):

Feature	Description
Multiple basal cell carcinomas (BCCs)	Often before age 20, especially on face, chest, back
Odontogenic keratocysts (OKCs)	Mandible > maxilla; often recurrent
Palmar/plantar pits	Small, punctate skin depressions
Calcification of falx cerebri	Common and best seen on CT
Family history	First-degree relative with NBCCS
Medulloblastoma	Especially desmoplastic type in infancy

Minor Features

Macrocephaly
Frontal bossing, hypertelorism
Bifid/fused ribs
Ovarian fibromas
Cleft lip/palate
Cardiac fibroma