What is Neurofibromatosis

Neurofibromatosis is a rare genetic disorder that causes skin and bone changes and the development of nerve tumors.

The tumors vary depending on the type of neurofibromatosis you have, but they are usually not cancerous (are usually benign). There are three types of neurofibromatosis:

• Neurofibromatosis 1 (NF1). This is the most common type.
• Neurofibromatosis 2 (NF2).
• Schwannomatosis. This is the least common type.

In most cases, this condition gets worse over time.

What are the causes?

This condition is caused by a change, or mutation, in genes that control the growth of nerve cells. You may have neurofibromatosis:

• At birth. This means you inherited mutated genes from your parents. Up to half of all cases of NF1 and NF2 are inherited.
• After birth. This means that your genes mutated after you were born. It is not known why this happens. This is the most common cause of schwannomatosis.

What are the signs or symptoms?

Symptoms of this condition depend on the type of neurofibromatosis you have.

Signs and symptoms of NF1 usually begin in childhood. They may include:

• Coffee-colored skin spots (cafe au lait spots).
• Freckles in the groin or under the arms.
• Benign tumors (neurofibromas) attached to one or more nerves.
• Discolored specks in the colored part of the eye (iris).
• Curving of the spine or other bone deformities.
• Short stature.
• Headaches.
• Seizures.
• Learning disabilities.

Signs and symptoms of NF2 usually begin in early adulthood. They may include:

• Benign tumors that develop on a nerve inside the ear (schwannoma).
• Ringing in the ears.
• Sudden hearing loss or hearing loss that gets worse over time.
• Balance problems or dizziness.
• Headache.
• Ear pressure or pain.
• Facial pain on the affected side.
• Vision changes.
• Numbness or weakness of the face on the affected side.

Signs and symptoms of schwannomatosis usually do not show up until adulthood. They may include:

• Long-term pain. This is the most common symptom.
• Development of many tumors throughout the body except in the ear.
• Numbness.
• Tingling.

How is this diagnosed?

This condition may be diagnosed based on your symptoms and a physical exam. Your health care provider may also do tests to help make the diagnosis. These may include:

• Blood tests.
• Genetic testing to look for gene mutations.
• Imaging studies such as an MRI or CT scan.
• Hearing, vision, and balance tests.
• Tests for learning disabilities.

It may take many years to be diagnosed with the disease because signs and symptoms may develop slowly.

How is this treated?

There is no cure for this condition, but treatment can relieve symptoms. Treatment may include:

• Medicines to control pain or seizures.
• Physical therapy for disabilities.
• Screening and close monitoring for complications such as neurofibromas in the eye and brain.
• Surgery to remove tumors that cause symptoms or become disfiguring. There is a small chance that tumors in people with NF1 will become cancerous. Tumors that become cancerous may need to be treated with:
  • Surgery.
  • Radiation.
  • Medicines that kill cancer cells (chemotherapy).
  • Combination of surgery, radiation, or chemotherapy.

Follow these instructions at home:

Medicines

• Take over-the-counter and prescription medicines only as told by your health care provider.
• Do not drive or use heavy machinery while taking prescription pain medicine.
• If you are taking prescription pain medicine, take actions to prevent or treat constipation. Your health care provider may recommend that you:
  • Drink enough fluid to keep your urine pale yellow.
  • Eat foods that are high in fiber, such as fresh fruits and vegetables, whole grains, and beans.
  • Limit foods that are high in fat and processed sugars, such as fried or sweet foods.
  • Take an over-the-counter or prescription medicine for constipation.

General instructions

• Avoid activities that may put you at risk for injury. This is especially important if you have dizziness or seizures. Ask your health care provider what activities are safe for you.
• Pay attention to any changes in your symptoms. Tell your health care provider about any changes or new symptoms.
• Keep all follow-up visits as told by your health care provider. This is important. This may include visits for tests, therapy, or counseling.

Contact a health care provider if:

• You develop any new symptoms.
• Your symptoms get worse.

Get help right away if:

• You have a seizure.
• You have a severe headache.
• You have a sudden change in vision, balance, or hearing.

Summary

• Neurofibromatosis is a rare genetic disorder that causes skin and bone changes and the development of nerve tumors.
• The tumors vary depending on the type of neurofibromatosis you have, but they are usually not cancerous (are usually benign).
• Your health care provider can diagnose the condition based on your symptoms and a physical exam.
• There is no cure for this condition. Treatment for your symptoms will be done by a team of health care specialists. It may include medicines, therapy, and surgery.