The most important genetic syndrome associated with the development of BCCs is the nevoid BCC syndrome. This syndrome is inherited in an autosomal dominant fashion and is caused by a defect in the patched 1 gene, PTCH1. This gene is located on chromosome 9q22. It encodes a tumor suppressor protein that plays a role in inhibition of the sonic hedgehog signaling pathway. A defect in the patched protein allows for uncontrolled signaling of the smoothened protein and an increase in various cell signaling pathways, ultimately culminating in the development of BCCs. Patients with nevoid BCC syndrome also may have odontogenic cysts of the jaw, palmar and plantar pitting, various bony abnormalities, and calcification of the falx cerebri. Frontal bossing, mental delay, and ovarian fibromas are only a few of the associated findings that can be seen in this syndrome.
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