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Last full review/revision May 2020| Content last modified May 2020
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What is neurofibromatosis?

"Neuro" refers to the nervous system. The nervous system includes the brain, spinal cord, and nerves. A "fibroma" is a fleshy growth.

In neurofibromatosis, many small, fleshy growths of nerve tissue (called neurofibromas) form on or under the skin and in other parts of the body. There are several types of neurofibromatosis.

  • Neurofibromas on the skin may affect your child's appearance

  • Neurofibromas sometimes cause symptoms by putting pressure on nerves

  • Most neurofibromas aren't cancerous but some are

  • Doctors can see and feel neurofibromas on the skin

  • Doctors do CT or MRI of your child's brain and body to find other neurofibromas

  • There's no cure, but doctors sometimes do surgery or use lasers to remove some of the neurofibromas

  • Doctors use chemotherapy for neurofibromas that are cancerous

What causes neurofibromatosis?

Neurofibromatosis is caused by an abnormal gene. The different types of neurofibromatosis are caused by different abnormal genes. Sometimes, a baby inherits the abnormal gene from a parent. Other times, the baby is the first person in the family to have the abnormal gene.

What are the symptoms of neurofibromatosis?

Symptoms depend on where the neurofibromas are.

Skin symptoms:

  • Skin spots like large freckles that are the color of milky coffee ("cafe-au-lait" spots)

  • Small lumps or bumps on the skin (some people have a few but others have thousands)

Nerve or spinal cord symptoms:

  • Tingling

  • Pain

  • Muscle weakness

Nerve symptoms occur when the growths put pressure on nerves in the arms or legs.

Brain symptoms:

  • Blindness

  • Dizziness

  • Weakness

  • Jerky and unsteady movements

  • Hearing loss

  • Ringing in the ears

  • Headache

Rarely, the growths can cause structural problems in the skull and spine and rib, arm, and leg bones. If the bone surrounding the eyeball is affected, the eyes can bulge.

How do doctors know if my child has neurofibromatosis?

Most people don't notice anything wrong with their child. Instead, the doctor notices café-au-lait spots or lumps under the child's skin during a routine exam. They may ask you if other family members have had similar symptoms.

Your child's doctor will exam the growths and spots. Doctors may do CT or MRI scans (tests showing detailed pictures of the inside of your body) to check for growths in and around your child's brain and spinal cord.

How do doctors treat neurofibromatosis?

There's no cure for neurofibromatosis.

Growths can be removed with surgery or laser treatments, but they may grow back. Doctors use chemotherapy for cancerous growths.

How can I prevent neurofibromatosis?

If you have neurofibromatosis in your family and you're planning on having children, you can get genetic tests. These tests can tell you if you carry the gene. If so, genetic counseling can help you see your chances of passing (or not passing) the gene on to your children.

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