Gorlin Syndrome

What is Gorlin syndrome?

Gorlin syndrome, also called nevoid basal cell carcinoma, is a condition that is characterized by an increased likelihood of malignant and benign tumors. 

What are the symptoms of Gorlin syndrome?

The major symptom of Gorlin syndrome is skin cancer (basal cell carcinoma), which tends to begin during adolescence or early adulthood. These growths typically form on the back, chest, and face. Benign tumors, called keratocystic odontogenic tumors, are also common and form on the jaw. They can result in swelling of the face and tooth displacement. 

Affected individuals also live with a higher chance of developing other cancers, such as medulloblastoma. Benign tumors called fibromas happen as well, which can cause various symptoms depending on where they form in the body. 

Other symptoms include a large head, prominent forehead, pits in the skin of the soles of the feet and palms, and skeletal abnormalities.  

What causes Gorlin syndrome?

A mutated PTCH1 gene, which is a tumor suppressor gene, causes Gorlin syndrome. It is responsible for the receptor patched-1, and it cannot actively stop tumor formation and growth when it is altered. It is passed down in an autosomal dominant pattern. 

A deletion on chromosome 9 can also cause this condition, as that portion of the chromosome holds the PTCH1 gene. These mutations are not inherited, instead they are new mutations. 

How is Gorlin syndrome diagnosed?

Doctors will either perform a genetic test to see if one has the mutations that cause Gorlin syndrome, or they will look for characteristic symptoms. There are a number of criteria that one needs to meet to be diagnosed with this condition. For testing, doctors use MRIs, ultrasounds, X-rays, skeletal surveys, and echocardiograms.  

What are the treatments for Gorlin syndrome?

There is no cure for Gorlin syndrome; doctors focus on preventing, managing, and treating the tumors that form. Doctors typically turn to laser therapy, curettage, and cryotherapy for the removal of tumors. 

In terms of prevention, it is important that people with Gorlin syndrome avoid excessive sun exposure, apply SPF, wear protective clothing, and avoid X-rays if necessary. 

Where can I find out more about Gorlin syndrome?

• • • • • • NIH
          • Gorlin Syndrome Alliance
          • NORD