What Is Basal Cell Nevus Syndrome?
Basal cell nevus syndrome, also called Gorlin syndrome, is a rare inherited condition that increases the risk of certain cancers and noncancerous tumors. The condition can affect the skin, bones, jaw, brain, and other parts of the body.
Basal cell nevus syndrome is caused by inherited changes in the PTCH1 or SUFU genes. These genes normally help control cell growth. When they do not work properly, abnormal cell growth and tumor formation can occur.
The condition follows an autosomal dominant inheritance pattern, meaning a parent with the condition can pass the gene change to their child.
Symptoms
Symptoms and health concerns can vary from person to person. Some people have mild symptoms, while others may develop multiple medical conditions over time.
Common features may include:
- Multiple basal cell skin cancers
- Jaw cysts
- Small pits on the palms of the hands or soles of the feet
- Large head size
- Differences in bone growth involving the ribs or spine
- Distinct facial features
- Increased risk of certain tumors, including childhood brain tumors
- Benign ovarian or heart tumors
How Is It Diagnosed?
Healthcare providers diagnose basal cell nevus syndrome by reviewing symptoms, medical history, and family history. A physical exam may look for skin changes, jaw cysts, or skeletal differences linked to the condition.
Imaging tests such as X-rays or scans may help identify bone changes or tumors. Genetic testing can confirm mutations in the PTCH1 or SUFU genes and may help guide long-term screening and care.
How Is It Treated?
Treatment focuses on monitoring for cancer and managing symptoms early. Regular skin exams are important to identify and treat basal cell skin cancers as soon as possible.
Some people may need surgery to remove skin cancers, jaw cysts, or other growths. Providers may also recommend routine imaging and specialist evaluations to monitor for related tumors or complications.
Sun protection, preventive skin care, and ongoing follow-up are important parts of long-term management. Genetic counseling may also help patients and family members better understand inherited cancer risks.
