What is neurofibromatosis?

Neurofibromatosis Type 1 is also called generalized neurofibromatosis, or NF-1. It is inherited (genetic) and is a chronic (ongoing) condition. It affects about 1 in every 4000 people.

NF-1 causes small noncancerous tumors to grow on nerves. This is common in the skin and can happen in other places in the body. NF-1 may affect your child's eyes, bones, and blood vessels. It can also affect the stomach, intestines, nerves, and brain.

How is NF-1 diagnosed?

Your child's healthcare provider will do an exam. Your child probably has NF-1 if he has 2 or more of the following features:

• Several large brown skin spots called cafe-au-lait spots. Most people with NF-1 have 6 or more cafe-au-lait spots. Fewer than 6 spots is fairly common in people who do not have NF-1.
• 2 or more rubbery bumps called neurofibromas.
• Freckling in the armpits or groin areas.
• A growth on the nerve to the eye called an optic glioma.
• Growths on the iris of the eyes called Lisch nodules.
• Thinning of the long bones (with or without joint problems).
• A close relative (parent, brother or sister, or child) with NF-1.

Genetic tests are available to diagnose NF-1. The tests do not predict the severity of the case of NF-1. Contact your nearest NF-1 clinic if you have questions about these tests.

What problems or symptoms will my child have?

Babies with NF-1 tend to be shorter than average, with heads somewhat larger than average.

When a child with NF-1 is born, he or she may only have the brown spots. The size of the spots varies from 1/4 inch in diameter to several inches. Sometimes newborns have armpit freckling and, occasionally, neurofibromas.

New brown spots often appear during infancy and early childhood. The spots will not harm your child. As children grow older, the spots and tumors tend to increase in number and size. The neurofibromas are particularly prone to increase in size during the teen years and pregnancy.

Neurofibromas may develop in other body organs other than skin. Depending on where they develop, they sometimes cause problems. Neurofibromas that put pressure on vital structures (for example, blood vessels) may do damage. Other problems include thinning of the bones of the skull and legs, curvature of the spine, and early or delayed puberty.

For reasons that are not well understood, learning disorders are more common in people with NF-1. Speech problems, hyperactivity, attention problems, seizures, and mental retardation are also somewhat more common and may contribute to the learning problems. High blood pressure may occur. Some cancers occur in greater than expected rates in people with NF-1.

What is the treatment?

Many healthcare providers will care for your child. The schedule for well-child visits is the same as for other children. However, there are some extra services and care your child needs.

• Baby: Regular check-ups, including blood pressure measurements, are important. Be sure to cover your child with sunscreen when he or she is out in the sunlight.

  You may want to discuss with a geneticist concerns you have about your child or other family members. You may also want to discuss the possibility of having other children with NF-1.

• 1 to 4 Years: Neurofibromas of the skin may develop during these years and may require medicine to prevent itching. It is important for your child to have an eye exam every year by an eye doctor. Your child should also have a hearing exam before he or she enters preschool or kindergarten.
• 5 to 12 Years: Some children with NF-1 start puberty (sexual development) too early. Your healthcare provider will check your child for pubic hair, breast enlargement, or other changes to see if puberty is starting too early. Your provider may also ask how your child is doing in school and how he or she gets along with others.
• 13 to 21 Years: Curvature of the spine, known as scoliosis, occasionally affects teens with NF-1. Your provider should check your child's spine periodically.

Many studies are now being done to find better treatments for NF-1. Surgery to remove the neurofibromas is sometimes done. They need to be removed surgically when they:

• may damage vital organs
• cause pain
• are infected
• are a cosmetic concern.

When should I call my child's healthcare provider?

Call during office hours if:

• You are worried about your child's:
  • learning or behavior
  • vision
  • nervous system
  • curvature of the back.
• The medicine your provider recommended for itching is not helping.
• You have other questions.

Additional Resources

The Children's Tumor Foundation (800-323-7938) provides information about medical advances as well as resources in the community for early detection of problems and support groups. Their Web site can be accessed at http://www.ctf.org.