What is Neurofibromatosis
Neurofibromatosis is an autosomal dominant genetic disorder. Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, comprises, along with neurofibromatosis typ...
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Help with 2 year old son!
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Hello. I have a 2 year old son who was born with a large (2 inch) Cafe au lait spot on his right lower leg. He has another one (though only about the size of an eraser) on his tummy, and I think maybe another one on his belly as well. His arms are very mottled...could this be more CALM's? He also has several patches of blonde hair growing in his otherwise dark head of hair. I know these are birthmarks, but are they CALM's? I am most concerned that the mottled arms may be a result of CALM. What do you think? Should I be concerned?
Posted on 06/23/08, 01:06 pm |
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Hi, my 2 yr old son also has NF and has the cafe au lait spots.
Joshua has lots of smaller spots that look like freckles too. My husband also has NF and he has a large patch of white hair on his head (he has black hair). I think the best thing to do would be to see a Geneticist as they can be very helpful. Emma x 
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thanks for this post, my brother has NF1 and also has a white patch of hair in his otherwise black head of hair. I didn't know this was related and I doubt he knows either. My brother has a lot of cafe au lait spots as well as fibromas, but they don't seem to be painful except for one on his ankle that seems to be pressing on a nerve when he wears shoes. If you are concerned I would see if you could see a geneticist. I know that the one my brother saw when he was young helped my parents with any concerns they had. Also, being from Canada, my mom also joined the provincial NF society that sent out monthly news letters.
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A patch of gray hair is an occasional finding in NF, documented but unexplained. However, CALS (usually fewer than we see in NF) and a patch of white hair can occasionally go with other genetic conditions which is why you really should see a geneticist.
If the mottling you are describing is sort of like Livedo reticularis I wouldn't worry about it too much...it isn't linked to CALS in any way. This is common in small children and usually goes away with time. I have often wondered about it though as I have skin with somewhat of that appearance as do my three kids. Our geneticist did comment on it but did not feel it was significant. Only my little daughter has signs of NF. http://dermnetnz.org/vascular/live...
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