Gorlin Syndrome (Basal Cell Nevus Syndrome)

Gorlin Syndrome is a rare, genetic, disease with a prevalence of 1:31,000, which suggests that there are ~10,000 persons in the USA affected with this condition. There are no FDA-approved drugs for Gorlin Syndrome.

Persons with Gorlin Syndrome have mutations in the tumor suppressor gene encoding Patched1 (PTCH1), which acts as the primary inhibitor of the hedgehog signaling pathway; this leads to hundreds of basal cell carcinomas, especially on the face and sun-exposed areas. The standard of care is surgery. Persons with severe Gorlin Syndrome have as many as 30 surgeries per year, which can lead to a poor quality of life due to the need for frequent, repetitive, scarring surgical procedures.

Sporadic Basal Cell Carcinomas

Sporadic basal cell carcinoma is a type of skin cancer that begins when one of the basal cells of the skin spontaneously develops a mutation in its DNA, usually due to UV radiation (sunlight, tanning lamps). They commonly occur in sun-exposed areas like the face and neck. They are more commonly found in persons with lighter skin, in the elderly, and in persons who have chronic sun exposure.  More than 4 million cases of sporadic basal cell carcinoma are diagnosed in the USA each year. These basal cell carcinomas are usually treated with surgery (curettage, excision or Mohs surgery), which often leave disfiguring scars.