Basal Cell Nevus Syndrome
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Basal Cell Nevus Syndrome

What Is Basal Cell Nevus Syndrome?

Basal cell nevus syndrome refers to 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) after you enter puberty. Basal cell carcinoma is the most common type of skin cancer in the United States. Most frequently found in people over age 45, it usually occurs as a result of prolonged exposure to sunlight. People with basal cell nevus syndrome have a high risk of developing basal cell carcinoma.

What Are the Symptoms of Basal Cell Nevus Syndrome?

Symptoms

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

  • medulloblastoma (a malignant brain tumor, usually in children)
  • breast cancer
  • non-Hodgkin’s lymphoma (NHL)
  • 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 (abnormal curvatures of spine)

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
  • intellectual disability

What Causes Basal Cell Nevus Syndrome?

Causes

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 of your parents to develop the disorder. If one parent has the gene, you have a 50-percent chance of inheriting it and developing the condition.

The specific gene involved in the development of basal cell nevus syndrome is the PTCH1, or patched, gene. This gene is responsible for making sure that normal cells in the body don’t 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.

How Is Basal Cell Nevus Syndrome Diagnosed?

Diagnosis

Your doctor can diagnose basal cell nevus syndrome. They will ask you about your health history, including 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. These may include:

How Is Basal Cell Nevus Syndrome Treated?

Treatment

Treatment of basal cell nevus 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.

People who develop tumors in their jaws will need to have surgery to remove them. Symptoms such as intellectual disability 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 and language therapy

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

Outlook

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

Can Basal Cell Nevus Syndrome Be Prevented?

Prevention

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. Your doctors will help provide you with the information you need to be able to make an informed decision.

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