About Gorlin Syndrome

What is Gorlin syndrome?

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, basal cell carcinoma nevus syndrome, Gorlin-Goltz syndrome, or basal cell nevus syndrome, is a rare genetic disorder. Gorlin syndrome can affect every organ system of the human body. People with Gorlin syndrome are at increased risk of developing basal cell carcinoma (BCC) skin cancers and non-cancerous tumors. Basal cell carcinomas are the most common manifestation of Gorlin syndrome.

gorlin syndrome and kids

With proper care, people with Gorlin syndrome live as long as people who don’t have the condition.

Considered a rare disease, there are approximately 11,000 people in the US living with Gorlin syndrome. It affects males and females equally. It is caused by a mutation of one of the two genes that suppress the development of tumors in the body.

Up to 70% of people with Gorlin syndrome have a family history of the disease. This group has inherited the genetic mutation that causes Gorlin syndrome from one of their parents.

The other 30% of people with Gorlin syndrome have a new or “spontaneous” mutation of one these tumor suppressing genes or are the first member of their family affected. Spontaneous mutation happens when the body mistakenly changes how a gene functions resulting in chronic disease and other health problems like Gorlin syndrome.

With proper management, people with Gorlin syndrome can expect to live as long as people who do not have the condition.

What are the symptoms of Gorlin syndrome?

There are many symptoms and signs, known as “indicators,” of Gorlin syndrome. Common indicators include:

  • Basal cell carcinomas (BCCs), a type of skin cancer that appears on the face, hands and back of the neck
  • Benign cysts in the jawbone, called keratocystic odontogenic tumors (KCOTS)
  • Small depressions, or pits in the palm of the hand and soles of the feet

Less common indicators of Gorlin syndrome include:

  • Improperly formed bones of the spine, ribs and skull
  • Meningiomas (slow growing, non-cancerous brain tumors)
  • Medulloblastoma, a malignant brain tumor in infants and young children
  • Benign cysts of the ovaries

Not all people with Gorlin syndrome will experience every sign and symptom.

Learn more about the signs and symptoms of Gorlin syndrome.

How is Gorlin syndrome treated?

gorlin syndrome and children

There is no cure for Gorlin syndrome but there are treatments.

Currently, there is no treatment or cure for Gorlin syndrome itself. Rather, treatment for Gorlin syndrome centers on the prevention, management and removal of tumors and cysts caused by the disease.

There are a variety of options to remove the tumors and cysts caused by Gorlin syndrome. These include cryotherapy (freezing), laser therapies and curettage (scraping).

To reduce the risk of developing skin cancers, people with Gorlin syndrome should avoid excessive sun exposure, apply sunscreen regularly throughout the day, wear sun protective clothing, sunglasses, and a hat when outside while the sun is up.

People with Gorlin syndrome should also avoid getting x-rays unless absolutely necessary as exposure to excessive radiation may contribute to the development of additional BCCs. Caregivers should be advised and use this knowledge in determining the risk vs. benefit of the study. Other diagnostic options such as MRI and or ultrasound may be available.

Learn more about managing Gorlin syndrome.

What causes Gorlin syndrome?

Gorlin syndrome is caused by a mutation in one of the two PTCH or “tumor suppressing” genes in our DNA. The PTCH genes make proteins that keep cells from proliferating or growing and dividing too quickly. Because one of PTCH genes in Gorlin syndrome does not function properly, cells grow too quickly. These abnormal cells form tumors.

gorlin syndrome and teenagers

Nearly all people with Gorlin syndrome inherit the condition from a parent.

In most cases, Gorlin syndrome is inherited from a parent or relative with the disease. Less commonly, Gorlin syndrome results from spontaneous mutations of the PTCH genes in people with no family history of the condition.

A child born to a parent with Gorlin syndrome has a 50-50 chance of inheriting the disease.

Is there a cure for Gorlin syndrome?

Currently, there is no cure for Gorlin syndrome but scientists are researching new ways to care for and treat this disease.