GorlinGoltzSyndrom

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder characterized by developmental anomalies and a predisposition to basal cell carcinomas. It is inherited in an autosomal dominant pattern and most commonly caused by germline mutations in the PTCH1 gene, though some cases result from new mutations.

Major clinical features include multiple basal cell carcinomas, often beginning in adolescence or early adulthood, and keratocystic odontogenic tumors of the jaw. Skeletal abnormalities such as bifid or fused ribs, calcification of the falx cerebri, and palmoplantar pits are common. Facial features may include frontal bossing and hypertelorism.

Diagnosis relies on a combination of major and minor criteria. Typically two major criteria or one major plus two minor criteria establish the diagnosis. Major criteria include multiple basal cell carcinomas (or one at young age), keratocystic odontogenic tumors, palmar/plantar pits, falx calcification, bifid/fused ribs, and a first-degree relative with NBCCS. Minor criteria include macrocephaly, cleft lip/palate, skeletal anomalies, and radiologic abnormalities.

Management emphasizes regular surveillance for skin cancers and jaw cysts, early treatment of lesions, and genetic counseling. Dermatologic treatment may involve surgical excision or Mohs surgery for basal cell carcinomas; jaw cysts may require enucleation. Ongoing imaging and dental monitoring are recommended, with attention to neurologic risk, including medulloblastoma in select cases.

The condition is rare and bears a variable clinical course, but early recognition and multidisciplinary care can improve outcomes and quality of life. The syndrome is named for Gorlin and Goltz, who described it in the 1960s.