Neurofibromatosis

What is neurofibromatosis?

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

Nearly all children with NF-1 eventually have:

• 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.
• Neurofibromas in the skin or elsewhere in the body. These are noncancerous tumors on nerves.

NF-1 may affect your child's eyes, bones, and blood vessels. It can also affect the stomach, intestines, nerves, and brain.

How is it diagnosed?

Your child probably has NF-1 if he has 2 or more of the following features:

• Several cafe-au-lait spots.
• 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.

What problems or symptoms will my child have?

Babies with NF-1 tend to be shorter than average, with heads somewhat larger than average. Growth charts specific for children with NF-1 are available at http://www.medgen.ubc.ca/friedmanlab/.

When a child with NF-1 is born, he or she may have only the cafe-au-lait 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 cafe-au-lait spots often appear during infancy and early childhood. The spots will not harm your child. As children grow older, the cafe-au-lait spots and neurofibromas tend to increase in number and size. Neurofibromas are particularly prone to increase in size during adolescence and pregnancy.

Neurofibromas may develop in other body organs other than skin. Depending on where they develop, they sometimes cause problems. Neurofibromas can put pressure on vital structures (for example, blood vessels) do damage. Neurofibromas need to be removed surgically when they:

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

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. High blood pressure may occur. Some cancers occur in greater than expected rates in people with NF-1.

What is the treatment?

Many doctors care for a child with NF-1. The schedule for well-child visits is the same as for other children, but there are some extra services and care your child needs.

• Infancy: 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.

  As parents of a newborn with NF-1, you may wish to discuss with a geneticist concerns you have about your child or other family members and 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 medication to prevent itching. It is important for your child to have an annual eye exam by an eye doctor and a hearing exam before he or she enters preschool or kindergarten.
• 5 to 12 Years: Some children with NF-1 enter puberty (sexual development) too early. Your doctor will check your child for pubic hair, breast enlargement, or other changes that suggest sexual maturation that occurs too early. Your doctor may also review your child's school achievement and ability to get along with others.
• 13 to 21 Years: Curvature of the spine, known as scoliosis, occasionally affects adolescents with NF-1 and should be checked for periodically.

The best treatment for neurofibromas is not yet known but many studies are now being done to solve this problem.

When should I call my child's doctor?

Call during office hours if:

• You are worried about your child's:
  • learning or behavior
  • vision
  • nervous system
  • curvature of the back.
• Benadryl does not relieve the discomfort from itching.
• You have other questions.

Additional Resources

The National Neurofibromatosis Foundation (800-323-7938) provides information about medical advances as well as resources in the community for early detection of problems and support groups. The NNFF Web page can be accessed at http://nf.org.

A book for parents is:

Rubenstein, A.E.; Korf, B.R. NEUROFIBROMATOSIS: A HANDBOOK FOR PATIENTS, FAMILIES, AND HEALTH-CARE PROFESSIONALS. New York: Thieme Medical Publishers, 1990.