Understanding Gorlin Syndrome: An Overview For Patients and Caregivers

Gorlin syndrome, also called basal cell nevus syndrome (BCNS), is a rare inherited condition caused by mutations in the PTCH1 gene. It leads to the development of numerous basal cell carcinomas (BCCs) and can also affect the nervous system, bones, heart, and jaw. Symptoms may appear in childhood or young adulthood and vary widely even within families. Diagnosis is based on clinical signs—such as early or multiple BCCs, jaw cysts, palmar/plantar pits, and certain brain or skeletal changes—along with genetic testing. Management requires a team of specialists, with regular skin exams, dental care, neurology checkups, and genetic counseling. Treatment includes surgical removal of BCCs, medications targeting the defective gene, and strict sun protection, as patients are highly sensitive to UV exposure. With proactive care and monitoring, many people with Gorlin syndrome can manage complications and maintain quality of life.

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