What is neurofibromatosis?

Neurofibromatosis (NF) is a genetic disorder. It affects your nervous system and nerve cells. The condition produces tumors on your nerves. They appear from abnormal cell production. The tumors can be underneath or on your skin. Most tumors formed from NF are benign (non-cancerous). However, some can lead to cancer.

There are two main types of neurofibromatosis. Type 1 (NF1) begins at birth or as a child. It also is known as von Recklinghausen’s disease. Type 2 (NF2) appears during late teenage or early adult years. It is less common than NF1. Schwannomatosis is a third and very rare form of NF.

Symptoms of neurofibromatosis

The symptoms of NF vary by type, but all involve tumors.

For the more common NF1, symptoms include:

  • Multiple light brown skin spots, called café-au-lait.
  • Presence of at least 2 neurofibromas (tumors).
  • Tumor(s) on your optic eye nerve.
  • Concentrated freckles in your armpits or groin.
  • Growths on the iris (colored part) of your eye.
  • Curved spine (scoliosis).
  • Deformed bones, such as your skull’s temple (sphenoid).

People who have NF1 can be shorter than normal or have a larger head. Other side effects include body pain, headaches, and epilepsy.

The first apparent sign of NF2 is ringing in your ears or hearing loss. Impaired balance, early onset cataracts, and vision loss can be warning signs. NF2 tumors are called schwannomas. Their appearance is small, dark, rough, and hairy.

NF2 tumors can grow along any nerves. The most common are the cranial nerves, which affect your hearing and balance. The tumors can press against or wrap around nerves and cause damage. This is dangerous along the brain stem, spinal cord, and major blood vessels. It can lead to symptoms, such as muscle numbness and weakness.

Schwannomatosis is rare. Its main feature is tumors anywhere except the vestibular nerve. Its main symptom is intense pain. This occurs as tumors grow, squeeze nerves, or crush tissue. Other symptoms include weakness, tingling, or numbness.

What causes neurofibromatosis?

NF is a genetic disorder. You can get it from your parents or a random gene mutation. If you have the condition, you can pass it on to your children.

How is neurofibromatosis diagnosed?

There are a few ways to diagnose NF. To start, your doctor will discuss and examine your symptoms. They will look for presence of at least two of the disorder’s symptoms. Tumor appearance, size, and location play a role. Your doctor may do blood or genetic testing. These tests can show gene defects. An X-ray, computerized tomography (CT) scan, or magnetic resonance imaging (MRI) also can help. They check for tumors in and around your nerves. If your doctor thinks you have NF2, they may do hearing tests.

Can neurofibromatosis be prevented or avoided?

You cannot avoid NF. You can have genetic testing to see if you carry the gene.

Neurofibromatosis treatment

With NF, doctors cannot prevent tumor growth. Most treatment options focus on relieving or reducing symptoms. Medicine can help treat pain. If you have NF2, hearing aids may help with hearing loss. An auditory brainstem implant is another option.

In severe cases, you may need surgery. A surgeon can remove tumors that cause physical or cosmetic problems. However, there is a chance the tumors can grow back. Surgery can correct some bone deformities.

If you have malignant (cancerous) tumors, you’ll need further treatment. This can include radiation, chemotherapy, or surgery.

Living with neurofibromatosis

NF doesn’t have a cure, but often doesn’t affect the length of your life. It is a disorder in which symptoms worsen over time. Most people who have a form of NF need ongoing treatment. This treatment helps manage related conditions, which can include:

  • congenital heart defects
  • vision problems
  • speech problems
  • learning disabilities
  • cosmetic deformities
  • impaired muscles
  • vertigo

The social and mental aspects of NF can be hard. The condition may keep you from leaving the house or working. Talk to your doctor about counseling or therapy to help you manage the emotional side-effects of NF.

Questions to ask your doctor

  • What are the benefits and risks of having surgery to remove tumors?
  • What types of medicine help treat NF?
  • Can medicine help stop or limit tumor growth?
  • What other health conditions are associated with NF?
  • Can you recommend a support group for people who have NF?