Understanding Gorlin Syndrome: Causes, Symptoms, and Treatment Options

Gorlin syndrome, also known as nevoid basal cell carcinoma (NBSCC) syndrome, is a rare genetic disorder that is characterized by the development of multiple basal cell carcinomas (BCCs) and other cancers, particularly in childhood and early adulthood. It is caused by mutations in the PTCH1 or SUFU genes.

The main features of Gorlin syndrome are:

1. Multiple basal cell carcinomas (BCCs): These are the most common type of skin cancer and can appear anywhere on the body, including the face, neck, and arms.
2. Other types of skin cancer: In addition to BCCs, people with Gorlin syndrome may also develop other types of skin cancer, such as squamous cell carcinomas (SCCs) and melanomas.
3. Ocular abnormalities: Gorlin syndrome is associated with an increased risk of eye problems, including cataracts, glaucoma, and retinal detachment.
4. Skeletal abnormalities: Some people with Gorlin syndrome may have skeletal abnormalities, such as short stature, thinning of the bones (osteoporosis), or abnormal curvature of the spine (scoliosis).
5. Other cancers: In addition to skin cancer, people with Gorlin syndrome may also be at increased risk of developing other types of cancer, such as ovarian cancer, testicular cancer, and brain tumors.
6. Developmental delays: Some people with Gorlin syndrome may experience developmental delays or learning disabilities.
7. Family history: Gorlin syndrome is usually inherited in an autosomal dominant pattern, which means that a single copy of the mutated gene is enough to cause the condition.

There is no cure for Gorlin syndrome, but early detection and treatment of skin cancers can help prevent complications and improve quality of life. Treatment options may include surgery, radiation therapy, and chemotherapy, as well as regular monitoring by a dermatologist or other healthcare provider.