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Gorlin Syndrome Overview

Jean Tang, MD, PhD is co-founder of PellePharm and serves on the PellePharm board of directors. She is a practicing dermatologist and associate professor of dermatology at Stanford University. In this video, Dr. Tang discusses Gorlin Syndrome, a rare, genetic, disease characterized by 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. With no FDA-approved drugs available for Gorlin Syndrome, also known as Basal Cell Carcinoma Nevus Syndrome (BCCNS), the standard of care is surgery. People with severe Gorlin Syndrome may have as many as 30 surgeries per year, which can be repetitive and scarring. Approximately 10,000 people in the United States, or one in 31,000, are believed to be affected by Gorlin Syndrome. Gorlin Syndrome is known by several names, including BCCNS, Gorlin-Goltz Syndrome, Basal Cell Nevus Syndrome, or Nevoid Basal Cell Carcinoma Syndrome.