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
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
- intellectual disability
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 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
How Is Basal Cell Nevus Syndrome Diagnosed?
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
- 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 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
- special education
- physical therapy
- occupational therapy
- speech and language therapy
What Is the Long-Term Outlook for Someone
with This Condition?
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?
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