Gorlin Syndrome

Gorlin syndrome is a rare genetic disease characterized by a structural genetic mutation in an allele of the tumor suppressor gene encoding PATCHED1 (PTCH1). PTCH1 is the major inhibitory protein of the hedgehog signaling pathway. This results in the formation of multiple basal cell carcinomas, which are more common in the face.

Because there is no FDA-approved drug for patients with Gorlin syndrome, the standard method for treating BCC is surgery. Patients with severe Gorlin syndrome may have up to 30 operations per year, which are repeated, leaving scars and disfigurement. There are approximately 10,000 patients in the United States, and it can be said that 1 in 31,000 people have Gorlin syndrome. Gorlin’s Syndrome has several other names, such as Gorlin-Golds Syndrome, Basal Cell Nevus Syndrome (BCNS), and Nervous Basal Cell Carcinoma Syndrome (NBCCS).