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What is neurofibromatosis type 1? — Neurofibromatosis type 1, also called "NF1," is a genetic disorder that causes brown blotches and abnormal growths on the skin and along nerves. It is usually passed on in families, but children can sometimes get it even if their parents do not have it.
What are the signs and symptoms of NF1? — The signs and symptoms include:
●Abnormal growths or tumors (called "neurofibromas") that form on the skin and along nerves
●Blotches that appear darker brown than the rest of the skin. These are called "café-au-lait spots" (picture 1).
●Freckling of the skin in the armpits and in the crease where the legs meet the body
●Spots on the colored part of the eye that look like tiny freckles
●Problems with the way bones form, which can cause:
•Bumps along the arms or legs that look like joints but aren't
•Deformed body parts (including the face)
•A curved spine or backbone (called "scoliosis")
•Bones that break easily
•Short height for age
NF1 can also cause tumors to form inside the brain, around the nerves that connect the brain to the eye, and in other parts of the body. Some of these tumors can become cancer.
Some children with NF1 have problems with learning or memory. They might have trouble paying attention in school.
Should I take my child to see a doctor or nurse? — Yes. If your child develops any of the signs or symptoms listed above, take them to see a doctor or nurse.
Will my child need tests? — Maybe. If the doctor or nurse suspects that your child has NF1, they will do an exam and ask you questions. Doctors can diagnose NF1 based on the results of the exam.
There is a blood test to check for the genetic problem that causes NF1. But doctors can diagnose NF1 without that test, so it is not always needed. If your child does have the genetic test, remember that a child can have the genetic problem that causes NF1 but have only mild symptoms.
How is NF1 treated? — One of the most important parts of treatment involves checking for changes that could mean NF1 is causing problems. Children with NF1 must see the doctor at least once a year and have certain tests (table 1). If NF1 starts causing certain problems, those problems must be treated. For example, if a skin growth gets too big or starts causing pain, it might be treated with medicine or removed with surgery.
If your child has trouble learning or focusing in school, there are things that can help with this. For example, your child might work with a tutor or school program to get extra support.
What if my child wants to have children? — There is a chance that your child would have children with the same problem. When your child grows up, they should talk to a doctor to find out what the risks might be.
What will my child's life be like? — Your child will need medical care throughout their life. It's best if they are treated by a team of experts who have experience with NF1. As your child gets older, they will probably develop more neurofibromas and other health problems caused by NF1. Many of these problems can be dealt with, but some are very serious.
Some children have trouble with their self-esteem, especially as they get older. They might struggle with looking different from other people. If your child is having a hard time, counseling can help. Your child's doctor can recommend a counselor or therapist if needed.
