This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Nevoid basal cell carcinoma syndrome (NBCCS) leads to the growth of non-cancerous and cancerous tumors. The symptoms include basal cell cancers, jaw cysts, skin pits on the hands and feet, and abnormal deposits of calcium in the brain. Other symptoms may include bone abnormalities of the spine, ribs, or skull, and a large head. Some of the signs and symptoms of NBCCS are present at birth. There is an increased risk for a type of brain tumor (medulloblastoma) in childhood. Jaw cysts and basal cell cancers typically appear by adulthood. NBCCS occurs when the PTCH1, PTCH2, or the SUFU gene is not working correctly. It is inherited in an autosomal dominant manner. NBCCS is diagnosed based on clinical examination for specific features and genetic testing. Treatment is aimed at addressing the symptoms and associated cancers.
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