Basal Cell Nevus Syndrome

Written by Darla Burke | Published on July 16, 2012
Medically Reviewed by George Krucik, MD

Basal Cell Nevus Syndrome

Basal cell nevus syndrome is a group of defects caused by a rare genetic condition. It affects the skin, endocrine system, nervous system, eyes, and bones. Other names for basal cell nevus syndrome include:

  • Gorlin syndrome
  • Gorlin-Goltz syndrome
  • nevoid basal cell carcinoma syndrome (NBCCS)

The telltale sign of this disorder is the appearance of basal cell carcinoma (skin cancer) when an individual enters puberty. According to Johns Hopkins Medicine, basal cell carcinoma is the most frequently diagnosed form of skin cancer in the United States (Johns Hopkins, 2012). Most common in people over age 40, it typically occurs as a result of prolonged exposure to sunlight. Individuals with basal cell nevus syndrome have a high risk of developing basal cell carcinoma.

What Causes Basal Cell Nevus Syndrome?

Basal cell nevus syndrome is passed down in families through an autosomal dominant pattern. This means that you only need to get the gene from one parent to develop the disorder. If one parent has the gene, a child has a 50 percent chance of inheriting it and developing the condition.

The specific gene involved in the development of Gorlin syndrome is the PTCH1 or patched gene. This gene is responsible for making sure that normal cells in the body do not multiply too rapidly. When problems with this gene arise, the body is not able to stop cell division and growth. As a result, your body is not able to prevent the growth of certain types of cancer.

What Are the Symptoms of Basal Cell Nevus Syndrome?

The most common symptom of Gorlin syndrome is the development of basal cell carcinoma early in adolescence or young adulthood. Gorlin syndrome is also responsible for the development of other cancers early in a person’s life, including:

  • medulloblastoma
  • breast cancer
  • non-Hodgkin’s lymphoma
  • ovarian cancer

People who have basal cell nevus syndrome often have unique physical features as well. Examples include:

  • pitting in the palms of the hands or on the feet
  • large head size
  • cleft palate
  • eyes that are spaced far apart
  • a protruding jaw
  • spinal problems, including scoliosis or kyphosis

Some people with basal cell nevus syndrome will also develop tumors in their jaw. These tumors are known as keratocystic odontogenic tumors and can cause the person’s face to swell. In some instances, the tumors will displace their teeth.

If the condition is severe, additional symptoms may result. For example, basal cell nevus syndrome can affect the nervous system. This can cause:

  • blindness
  • deafness
  • seizures
  • mental retardation

How Is Basal Cell Nevus Syndrome Diagnosed?

Your doctor can diagnose basal cell nevus syndrome. He or she will ask you about your health history, if you have been diagnosed with cancer, and if there is a history of the disease in your family. Your doctor will also perform a physical exam to see if you have any of the following:

  • keratocystic odontogenic tumors
  • fluid on the brain that leads to head swelling (hydrocephalus)
  • abnormalities in the ribs or spine

To confirm your diagnosis, your doctor may also order additional tests including:

  • an echocardiogram
  • MRI of the head
  • biopsy (if you have tumors)
  • X-ray of the head and jaw
  • genetic testing

How Is Basal Cell Nevus Syndrome Treated?

Treatment of Gorlin syndrome will depend on your specific symptoms. If you have cancer, your doctor may recommend that you see an oncologist (cancer specialist) for treatment. If you have the condition but do not develop cancer, your doctor may recommend that you see a dermatologist (skin doctor) on a regular basis. The dermatologist will be able to examine your skin to detect skin cancer before it reaches a life-threatening stage.

Individuals who develop tumors in their jaws will need to have surgery to remove them. Symptoms such as mental retardation may be treated through services to improve the person’s capabilities and quality of life. Services can include:

  • special education
  • physical therapy
  • occupational therapy
  • speech/language therapy

What Is the Long-Term Outlook for Someone with This Condition?

If you have Gorlin syndrome, your outlook will depend on the complications that result from your condition. Skin cancer, if caught early, can be effectively treated. However, patients with advanced stages of this cancer may not have a good outlook. If complications such as blindness or deafness occur, your outlook may also be diminished.

Can Basal Cell Nevus Syndrome Be Prevented?

Basal cell nevus syndrome is a genetic condition that may not be possible to prevent. If you have this disorder or carry the gene for it, you should seek genetic counseling if you want to have children.

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