Gorlin Goltz Syndrome
Gorlin Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder that increases the risk of developing various tumors, particularly basal cell carcinomas. It is caused by mutations in the PTCH1 gene, which plays a role in cell growth and development. Individuals with this syndrome may also experience other features, such as jaw cysts, skeletal abnormalities, and skin changes.
Diagnosis typically involves a combination of clinical evaluation and genetic testing. Management focuses on regular monitoring for tumors and addressing any associated health issues. Early detection and treatment can help improve outcomes for those affected by Gorlin Goltz Syndrome.