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Neurofibromatosis

By

The Manual's Editorial Staff

Last full review/revision Apr 2022| Content last modified Apr 2022
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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. Some types are diagnosed in babies and children and others are more commonly diagnosed in adults.

What causes neurofibromatosis?

Neurofibromatosis is caused by an abnormal gene Genes and Chromosomes Your genes are the chemical codes that control everything about how your body works, how it's made, and what it looks like. People have over 20,000 different genes. Every cell in your body has... read more . 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 other people have thousands)

Nerve or spinal cord symptoms:

  • Tingling

  • Pain

  • Muscle weakness

Nerve symptoms can 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.

How do doctors treat neurofibromatosis?

There's no cure for neurofibromatosis.

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 Genes and Chromosomes Your genes are the chemical codes that control everything about how your body works, how it's made, and what it looks like. People have over 20,000 different genes. Every cell in your body has... read more . If so, genetic counseling can help you see your chances of passing (or not passing) the gene on to your children.

NOTE: This is the Consumer Version. DOCTORS: CLICK HERE FOR THE PROFESSIONAL VERSION
CLICK HERE FOR THE PROFESSIONAL VERSION
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