Gorlin Syndrome

What is Gorlin syndrome?

Gorlin syndrome — also called basal cell nevus syndrome, nevoid basal cell carcinoma syndrome (NBCCS) and Gorlin-Goltz syndrome — is a rare genetic disorder that increases your risk of developing cancerous and benign (noncancerous) tumors. With this condition, a harmful change (mutation) in one of your genes makes you especially likely to develop basal cell carcinoma. This is the most common type of skin cancer.

There’s no cure for Gorlin syndrome. But with careful monitoring to diagnose and treat cancer in the early stages, a person living with this condition can live as long as someone without it. Gorlin syndrome doesn’t have to impact your lifespan or your quality of life.

How common is Gorlin syndrome?

Gorlin syndrome is rare. Experts estimate fewer than 50,000 people in the United States have NBCCS. Still, the actual number may be higher. That’s because people with mild symptoms may not know that they have the condition. Most people develop symptoms in their teens or early adulthood.

What are the symptoms of Gorlin syndrome?

Signs of Gorlin syndrome vary. The most common ones include:

• Several basal cell carcinomas. Skin cancer usually appears in sun-exposed areas (like your face or neck). With nevoid basal cell carcinoma syndrome, it usually occurs during adolescence or early adulthood.
• Odontogenic keratocysts. A type of benign cyst in your jawbone, these painless growths are commonly diagnosed in children and young adults with NBCCS.
• Pits or small indentations in the soles of your feet or palms of your hands. The pitting most commonly appears in your 20s and is permanent.
• Changes to your skeleton. There may be differences in the way your rib and spine bones are made.

Less commonly, signs and symptoms of Gorlin syndrome include:

• Brain tumors, including medulloblastoma (cancerous) and meningioma (usually benign)
• Fibromas in your heart or ovaries, which are noncancerous (and typically harmless) tumors
• Eye problems, including crossed eyes (strabismus), rapid eye movements (nystagmus) and cataracts
• Severe bone changes, like an incompletely formed spine (spina bifida)
• Atypical facial features, like wideset eyes (hypertelorism), a congenital anomaly causing a separation in your upper lip and roof of your mouth (cleft lip/palate) and tiny, white bumps on your face (milia)
• An enlarged head (macrocephaly)
• Intellectual disabilities
• Seizures

What causes Gorlin syndrome?

Nevoid basal cell carcinoma syndrome occurs because of a mutation in one of three genes that are supposed to stop tumors from forming — PTCH1 (most common), PTCH2 or SUFU. They’re called tumor suppressor genes. Certain cells grow abnormally if these genes aren’t working as they should. This is what causes symptoms like tumor growth. Most people inherit the mutation from a biological parent. But in some cases, people develop a mutation that arises spontaneously before birth.

People who inherit the mutation for NBCCS do so in an autosomal dominant pattern. This means you inherit one normal copy of a gene from one parent and one mutated gene from the other parent. You only need one copy of the PTCH or SUFU gene mutations to have Gorlin syndrome.

Scientists propose that people with Gorlin syndrome don’t develop cancer unless the normal copy of tumor suppressor gene also changes. For example, sun damage can cause a mutation in the normal gene. When this happens, neither gene works properly to prevent tumors from forming. This can lead to skin cancer. With NBCCS, damage to other cells in your body that already have one copy of the mutation can lead to other cancers.

How is Gorlin syndrome diagnosed?

To diagnose Gorlin syndrome, your healthcare provider will check for signs of the condition. This may include:

• A physical exam to look for skin cancer
• Imaging tests to check for jaw cysts, fibromas or musculoskeletal issues
• A biopsy to test tissue samples for cancer cells
• A genetic test to see if you have a mutation associated with NBCCS

How is Gorlin syndrome treated?

While there isn’t a treatment for Gorlin syndrome itself, you may need treatment if you develop cancer or other growths that cause issues. For example, you may need surgery to remove skin cancer or a jaw cyst. You may need other cancer treatments, like topical creams or photodynamic therapy, to destroy cancer cells.

Because of your increased cancer risk, your healthcare provider may recommend applying strong/complete sunblock and wearing long sleeves and hats when you’re in the sun. Also, your providers will only do X-rays sparingly. Generally speaking, cancer specialists (oncologists) avoid radiation therapy altogether as a cancer treatment if you have Gorlin syndrome. The radiation can increase your cancer risk.

Can I prevent Gorlin syndrome?

There’s no way to control the genes you’re born with, which means you can’t prevent Gorlin syndrome. But you can reduce your cancer risk by taking steps to avoid skin cancer. You can see your healthcare provider regularly to catch cancer in the early stages when it’s curable.

Speak to a genetic counselor if you have Gorlin syndrome (or if it runs in the family) and you’re worried about passing it on to a child. They can help you understand potential risks if you and your partner plan to conceive.

What is the outlook if I have NBCCS?

Most people with nevoid basal cell carcinoma manage it by taking steps to prevent skin cancer and getting regular checkups. Following your healthcare provider’s recommendations about how often you need cancer screenings can help catch any issues early. People with Gorlin syndrome have the same life expectancy (and can have the same quality of life) as those without it.

Also, it’s important to remember that not everyone with NBCCS develops cancer or has issues. It varies from person to person. Your provider can advise you on your prognosis based on your symptoms.

How do I take care of myself?

If you have Gorlin syndrome, you should take special precautions to prevent skin cancer, like:

• Avoiding tanning beds
• Staying inside when the sun’s rays are strongest (between 10:00 a.m. and 4:00 p.m.)
• Wearing a broad-spectrum sunscreen with at least 30 SPF daily and reapplying regularly
• Covering your skin with UV-protective clothing and wearing a wide-brimmed hat when you’re outside

You’ll also need to see various healthcare providers to screen for cancers and other conditions. The frequency of your visits depends on whether they find growths or other abnormalities. Visits may involve:

• Skin checks with a dermatologist
• Dental exams and imaging tests to check for jaw cysts
• Imaging tests to check for fibromas, brain tumors or vision issues

When should I see my healthcare provider?

Contact a healthcare provider if you suspect that you or your child has basal cell carcinoma — the most common sign of Gorlin syndrome. Like other types of skin cancer, be on the lookout for new lumps or bumps that don’t fade or grow bigger.

Most cases of skin cancer aren’t related to Gorlin syndrome. Still, no matter the cause, it’s important to get checked.

What questions should I ask my healthcare provider?

If you’re diagnosed with Gorlin syndrome, you may want to ask your provider:

• What are the signs of cancer that I should know about?
• How often will I need cancer screenings?
• What can I do to reduce my cancer risk?
• Will I need treatment for benign growths?
• What are the chances that I’ll have a child with Gorlin syndrome?