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Neurofibromatosis Type 1 (Nerve Tumors)

What is neurofibromatosis?

Neurofibromatosis type 1, or NF1, is a genetic problem that causes noncancerous tumors to grow on nerves. The tumors are called neurofibromas. Neurofibromatosis often affects nerves in the skin but it can happen in other places in the body. It may affect your child's eyes, bones, and blood vessels. It can also affect the stomach, intestines, nerves, and brain.

What is the cause?

NF1 is caused by a problem with the gene that helps control the growth of nerve cells. A change in the gene lets the cells grow out of control. Usually the defective gene is inherited from the parents.

What are the symptoms?

Symptoms may include:

  • Several large brown skin spots called cafe-au-lait spots. Most people with NF1 have 6 or more of these spots. They are harmless.
  • 2 or more rubbery bumps on the skin (neurofibromas)
  • Freckling in the armpits or groin
  • Growths on the iris of the eyes called Lisch nodules
  • Curved spine (scoliosis) or bowed lower leg
  • Height that is shorter than average
  • A head that is somewhat larger than average

When a child with NF1 is born, he or she may have only the brown spots. The size of the spots can vary from 1/4 inch to several inches across. Sometimes newborns have armpit freckling or neurofibromas. As children grow older, the spots and tumors tend to increase in number and size. The neurofibromas particularly tend to increase in size during the teen years and pregnancy.

For reasons that are not well understood, learning disorders are more common in children with NF1. Speech problems, hyperactivity, attention problems, and seizures are also somewhat more common and may contribute to the learning problems.

How is it diagnosed?

Your child's healthcare provider will ask about your child’s medical history and examine your child. In some cases blood tests may be done to look for the abnormal gene. If you have a family history of NF1, chorionic villus sampling (CVS) or amniocentesis may be used to look for the abnormal gene before the birth of your child.

How is it treated?

Neurofibromatosis cannot be cured, but your child should have regular checkups with your healthcare provider so your provider can help symptoms and check for problems. Your child should also have an eye exam every year and a hearing exam before he or she enters preschool or kindergarten.

Some of the things your provider will check are:

  • Blood pressure because sometimes high blood pressure is a problem for children with NF1
  • Signs of problems caused by the neurofibromas. For example, they may put pressure on vital structures, like blood vessels, and damage these structures or organs.
  • The bones of the skull and legs for signs of thinning
  • Curvature of the spine
  • Early or delayed puberty (sexual development)
  • How your child is doing in school and how he or she gets along with others

Your child’s healthcare provider may prescribe medicine for itching of the neurofibromas. Sometimes surgery may be done to remove the neurofibromas. They may need to be removed when they:

  • May damage vital organs
  • Cause pain
  • Are infected
  • Affect how a child feels about himself

How can I take care of my child?

Follow your child’s healthcare provider's instructions. Ask your provider:

  • How and when you will hear your child’s test results
  • What activities your child should avoid and when your child can return to normal activities
  • How to take care of your child at home
  • What symptoms or problems you should watch for and what to do if your child has them
  • What medical specialists your child may need to see, such as an eye care provider

Make sure you know when your child should come back for a checkup.

You can get more information from:

Developed by RelayHealth.
Pediatric Advisor 2013.2 published by RelayHealth.
Last modified: 2013-02-25
Last reviewed: 2013-02-07
This content is reviewed periodically and is subject to change as new health information becomes available. The information is intended to inform and educate and is not a replacement for medical evaluation, advice, diagnosis or treatment by a healthcare professional.
© 2013 RelayHealth and/or its affiliates. All rights reserved.
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