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 health care 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 health care 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.
The best treatment for neurofibromas is not yet known but
many studies are now being done to answer this question.
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 health care 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.
