Neurofibromatosis: what is it?

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Indy Lifestyle Online

Our three-year-old daughter has been diagnosed with neurofibromatosis. She was born with quite a few small, pale brown skin marks, which caused her no problems. We thought they were just simple birthmarks. When she went to the GP about something unrelated, she saw a new doctor who thought the marks might represent an underlying problem. She was sent to a paediatrician, and after scans and examinations, we've been told that she has neuro-fibromatosis type 1. It's apparently a genetic condition, but neither of us has any sign of it. Where can we find out more about it? I looked on the internet, and some of the stuff I saw was frightening.

Dr Fred Kavalier answers your health question:

Neurofibromatosis type 1 (NF1) is a genetically inherited condition. Sometimes it appears "out of the blue" in a family where no one has had it before. There's also a type 2 (NF2), which is a completely different condition.NF1 is caused by a change (a mutation) in the NF1 gene. If someone carries an NF1 mutation, there is a 50-50 chance of passing it on to each of their children. NF1 can be very mild or it can be severe. In its mildest form, it just causes a few brown flat patches on the skin, together with freckles under the arms and in the groin. It can also cause soft lumpy growths in any part of the body (neurofibromas), curvature of the spine, kidney and eye problems. Sometimes it can cause very disfiguring tumours. Children with NF1 sometimes, but not always, have certain types of learning difficulties.You can find out more from the Neurofibromatosis Association (www.nfauk.org). Your daughter is going to need regular check-ups during childhood, and less frequently as she gets older.

Please mail your questions for Dr Fred to health@independent.co.uk. He regrets that he is unable to respond personally to questions.

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