Nevoid basal cell carcinoma syndrome

Basal Cell Carcinoma Nevus Syndrome, Gorlin-Goltz Syndrome, Gorlin Syndrome

Overview

Type of disease: Rare conditions

Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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