Neurofibromatosis NF1

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 of light to medium brown skin that look like giant freckles (called “café-au-lait spots”)

●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.

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 him or her to see the doctor or nurse.

Will my child need tests? 

— Maybe. If the doctor or nurse suspects your child has NF1, he or she 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, keep in mind that a child can have the genetic problem that causes NF1 but have only mild symptoms.

How is NF1 treated? 

— The most important part 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. If NF1 starts causing certain problems, those problems must be treated. For example, if a skin growth gets too big or starts causing pain, surgery can be done to remove the growth.

What if my child wants to have children? 

— There is a chance your child would have children with the same problem. When your child grows up, he or she 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 his or her life. It’s best if he or she is treated by a team of experts who have experience with NF1. As your child ages, he or she 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.

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