Gorlin Syndrome

What is Gorlin syndrome?

Gorlin syndrome is a rare genetic disease. It increases your risk for certain types of skin cancer or benign (not cancerous) tumors. People with Gorlin syndrome have a change (mutation) in one of their genes.

There’s no cure for Gorlin syndrome. It can cause symptoms that affect multiple parts of your body. But with treatment, most people with the condition live as long as those without it. Other names for Gorlin syndrome include nevoid basal cell carcinoma syndrome (NBCCS) and Gorlin-Goltz syndrome.

Is Gorlin syndrome inherited?

Yes. Most, but not all, people with Gorlin syndrome inherit the condition. There are two types of Gorlin syndrome:

• Inherited: About 7 in 10 people with Gorlin syndrome inherited it.
• Spontaneous: About 3 in 10 people with Gorlin syndrome didn’t inherit it. Instead, they have a random gene mutation.

Who might get Gorlin syndrome?

Gorlin syndrome affects all genders equally. Although the condition affects people of all races, you are less likely to have it if you are of African or Asian descent.

How common is Gorlin syndrome?

Gorlin syndrome is rare. Experts estimate that only around 11,000 people in the United States have it. The actual number may be higher. That’s because people with mild symptoms may not know or report that they have the condition.

What causes Gorlin syndrome?

Gorlin syndrome occurs because of a mutation in one of three genes — the PTCH1, PTCH2 or SUFU.

These genes all stop tumors from forming or growing.

You may have a family history of Gorlin syndrome and inherit one of these gene changes. Or the gene mutation may happen for no known reason.

What are the symptoms of Gorlin syndrome?

Signs of Gorlin syndrome can vary. The most common signs include:

• Basal cell carcinoma, the most common type of skin cancer, often on your face, hands or neck.
• Keratocystic odontogenic tumors, benign cysts in your jawbone that form from adolescence until about age 30.
• Pits or small indentations in the soles of your feet or palms of your hands.

Less commonly, people with Gorlin syndrome might have:

• Brain tumors, including meningioma or medulloblastoma.
• Cleft lip or palate.
• Eye problems, including crossed eyes (strabismus), small eyes (microphthalmia), cataracts or rapid eye movements (nystagmus).
• Growths in the ovaries (fibromas).
• Heart (cardiac) fibromas, growths that can cause heart rhythm problems (arrhythmia).
• Large forehead (frontal bossing) or wideset eyes (hypertelorism).
• Skeletal problems in the ribs, spine or skull.
• Unusually large head (macrocephaly).
• White skin bumps or cysts (facial milia).

How do you test for Gorlin syndrome?

To diagnose Gorlin syndrome, your provider asks about your symptoms and performs a physical exam. Your healthcare provider may also give you a blood test that looks for specific gene mutations.

Some imaging tests check for symptoms of Gorlin syndrome, such as jaw cysts or skeletal problems. You may have an:

• MRI.
• Ultrasound.

While X-rays can be a helpful tool to evaluate your bones, your provider may recommend avoiding them. X-rays use small doses of radiation. Radiation can increase your risk of basal cell carcinoma if you have Gorlin syndrome. Your provider can give you instructions about risks and benefits of X-rays and provide alternate imaging options.

How do you treat Gorlin syndrome?

Gorlin syndrome treatment focuses on symptom management. You may have:

Skin cancer treatment

If you have basal cell carcinoma, your skin cancer treatment might include:

• Applying chemotherapy medications to your skin (topical chemotherapy).
• Freezing off skin lesions (cryotherapy), performed in your provider’s office.
• Using drugs and a special light to destroy skin lesions (photodynamic therapy), also in your provider’s office.

Surgery

If you have a tumor or jaw cyst, your provider may surgically remove it. For basal cell carcinoma, your provider may use a technique called Mohs surgery to remove damaged skin tissue in layers.

How can I prevent Gorlin syndrome complications?

The most common complication of Gorlin syndrome is basal cell carcinoma. This cancer is the most common skin cancer. Basal cell carcinoma is especially common among those with Gorlin syndrome. You should have a yearly skin check with a dermatologist (skin care doctor) to check for signs of skin cancer.

Like everyone, you can reduce your risk of skin cancer by reducing sun exposure and never using tanning beds. You may:

• Avoid going outside when the sun’s rays are strongest, between 10 a.m. and 4 p.m.
• Cover your skin with ultraviolet (UV) protective clothing and wear a wide-brimmed hat.
• Stay in the shade as much as possible.
• Wear a broad-spectrum sunscreen with at least 30 SPF every day.

With Gorlin syndrome, you also need regular monitoring to avoid complications of nevoid basal cell carcinoma syndrome. You may have:

• Annual imaging tests to look for jaw cysts.
• Regular head measurements during childhood.
• Yearly skin checks.

Is there a cure for Gorlin syndrome?

There’s no cure for Gorlin syndrome. Experts are researching new treatment methods and potential cures. Still, by following a healthcare provider’s recommendations, many people with Gorlin syndrome live a high quality of life.

What is the outlook if I have nevoid basal cell carcinoma?

Most people with nevoid basal cell carcinoma manage the condition by taking precautions to avoid complications. If you get treatment, nevoid basal cell carcinoma doesn’t typically affect your lifespan.

What else should I ask my doctor?

You may also want to ask your healthcare provider:

• What are the signs of Gorlin syndrome?
• How do I know if my baby has Gorlin syndrome?
• What are the treatment options?
• What lifestyle changes should I make to reduce the risk of complications?
• What are the chances that I’ll have another child with Gorlin syndrome?

Is Gorlin syndrome a disability?

Depending on your symptoms, Gorlin syndrome may be considered a disability. If you cannot work for a year or longer due to your health condition, you may be medically disabled. Talk with your healthcare provider about your needs.

A note from Cleveland Clinic

Gorlin syndrome is a rare genetic disorder. It can affect any organ or part of your body. Most commonly, it causes a type of skin cancer called basal cell carcinoma. Gorlin syndrome occurs because of a gene mutation. Most people inherited the gene mutation from their parents, but some may have a random gene mutation. With treatment, most people with Gorlin syndrome manage it well and live a typical lifespan.