Neurofibromatosis type 1, or NF1, is a genetic problem that causes noncancerous tumors to grow on nerves. The tumors are called neurofibromas. Neurofibromatosis 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.
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. Usually the defective gene is inherited from the parents.
Symptoms may include:
When a child with NF1 is born, he or she may have only the 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 increase in size during the teen years and pregnancy.
For reasons that are not well understood, learning disorders are more common in children with NF1. Speech problems, hyperactivity, attention problems, and seizures are also somewhat more common and may contribute to the learning problems.
Your child's healthcare provider will ask about your child’s 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 before the birth of your child.
Neurofibromatosis cannot be cured, but 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 he or she enters preschool or kindergarten.
Some of the things your provider will check are:
Your child’s healthcare provider may prescribe medicine for itching of the neurofibromas. Sometimes surgery may be done to remove the neurofibromas. They may need to be removed when they:
Follow your child’s healthcare provider's instructions. Ask your provider:
Make sure you know when your child should come back for a checkup.
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