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Genetics (Expert Forum)
Neurofibromatosis
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This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Neurofibromatosis
by KadyM, May 08, 2008 08:52AM
A few months ago, my doctor noticed that I had some cafe au lait freckles in my axillary regions. None of them are very large. The larger freckles are in other places, but none of them are more than 10-12 mm, and I don't have many. I've also got "eye freckles" on my sclera, but no real eye problems. But my doctor brought up that the freckles are a symptom of NF. A few weeks after that visit, I noticed that I had a couple of little "bumps" on my face. They haven't gone away yet and they are irregularly shaped. They're small, but I'm worried that they might be neurofibromas. Should I have some testing done to determine if I have NF? What kind of options are there? I'm only 18 and no one else in my family has it.
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Just be on the look out for sudden pain and change in a neurofibroma (rapid growth) as this could indicate cancer, although this is rare (5% of all patients) and usually happens later on in life.