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. NF1 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. Genes are inside each cell of your body. They contain the information that tells your body how to develop and work. Usually problems with genes are passed from parents to children.

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 called 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, the only symptoms may be 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 get bigger during the teen years and during pregnancy.

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

How is it diagnosed?

Your child’s healthcare provider will ask about your child’s symptoms and 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 during pregnancy.

How is it treated?

Neurofibromatosis cannot be cured. However, 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 starting preschool or kindergarten.

Some of the things your child’s 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 damage important parts of the body, like blood vessels.
• The bones of the skull and the legs for signs of bone 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

If your child has neurofibromas, they may itch. Your child’s healthcare provider may prescribe medicine for the itching. Sometimes surgery may be done to remove the neurofibromas. They may need to be removed if 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:

• The Children’s Tumor Foundation
  1-800-323-7938
  http://www.ctf.org