Clinical Reference Systems: Pediatric Advisor 10.0
Neurofibromatosis
Description
Neurofibromatosis 1 is also called generalized
neurofibromatosis or NF-1. It is a genetic and 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 six or more cafe-au-lait spots.
Fewer than six spots is fairly common in people who do
not have NF-1.)
- neurofibromas (noncancerous tumors of the sheaths of the
nerves) in the skin or elsewhere in the body.
Parts of the body that may be affected include the eye, the
bones, and sometimes the blood vessels, gastrointestinal
tract, nerves, and brain.
Diagnosis
NF-1 is diagnosed when two or more of the following features
are present:
- several cafe-au-lait spots
- two 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 first-degree relative (parent, brother or sister, or
child) with NF-1.
Growth and Development
Infants 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://mendel.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 do 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 besides the
skin. Sometimes they cause problems, depending on where
they develop. Neurofibromas can put pressure on vital
structures (for example, blood vessels) and thus do damage
to the organs they are pressing on. 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 than in the general
population. 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 persons with NF-1.
Health Care for a Child with Neurofibromatosis
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.
The best treatment for neurofibromas is not yet known but
many studies are in progress to determine if they can be
reduced.
Call Your Child's Physician 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.
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