Cafe Au Lait Spots

Are there specific types of cafe au lait spots associated with NF1? I cannot really find a lot of internet resources that show exactly what the spots look like. I seem to find images of the same spots over and over again.

I am being told that my son's spots are not indicative of NF1 because they are so small. Both the pediatric dermatologist and geneticist are nearly dismissive about them. The geneticist specializes in NF. She has seen many, many cases. I can't see her misinforming us, especially since I have been so direct and questioning.

So, I am looking for images that I can compare to what I see. My son also has a hypopigmented macule, so we were at first worried about tuberous sclerosis. We go from one genetic disorder to the next with these birthmarks.

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THE CAL SPOTS YOU KNOW ARE BROWN SOMETIMES THEY ARE BIG SOME ARE SMALL SOME ARE DARKER THAN OTHERS.MY LITTLE WAS BORN WITH ANY BIRTHMARKS OR CAL SPOTS THEN AT 3WEEKS SHE GOT A REALLY BIG CALSPOT FROM THE FRONT OF HER STOMACH ALL THE WAY AROUND TO HER BACK SHE HAS A BIG ONE ON THE SIDE OF HER NECK AND MANY MORE ALL OVER BODY.HER DOCTOR TOLD ME SHE HAD NF1.MOST OF THE TIME THATS HOW THEY KNOW PEOPLE HAVE NF BUT DONT LET THEM TELL YOU NOW THAT HE DONT HAVE IT BUT LATER DOWN THE ROAD THEY TELL YOU HE HAS IT.AT 18MONTHS MY DAUGHTER HAD A MRI AND THEY FOUND A BRAIN TUMOR AND ONE ON HER EYE.SO ASK THEM IF HE CAN GET A MRI WHAT THEY CANT SEE ON THEY OUTSIDE MIGHT BE ON THE INSIDE.DONT LET THEM PLAY WITH YOUR BABYS LIFE.NF AINT NO JOKE WHEN IT COMES TO TUMORS ON THE BRAIN THEY CANT DO NOTHING ABOUT. GOOD LUCK

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yes they can be big or small, coffe colored, doctors say if you have 6 or more spots is a good indacator that you have NF

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My daughter's spots were present either at birth, or very shortly afterward. We of course, thought they were just "birthmarks". The pediatrician noticed them, but said that they were small, and not large enough in number to be concerned about at the time, but he wanted to keep an eye on them. 7+ years later, her spots increased in number, and size, and are slightly darker now too... and she was diagnosed back in November '08. The spots are irregular in shape- anywhere on her torso, upper arm, and upper thigh, and are- as was mentioned- the color of creamed coffee being darker than the surrounding skin. Hers in particular range in size from irregular nickle size, down to smaller eraser size. Hope that helps. :-) Karan

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Is there any way to post photos of what they look like? I have four pictures.

Thanks!

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I can't help you with the photos, but I would be interested in what you find out as well. My daughter has not been diagnosed yet with NF, but we go to a geneticist in May to find out. My daughter has one cafe au lait that is so light, that you can hardly see it. It is large and on her abdomin. I've been curious about it as well because one doctor says it looks like a cafe, but another doctor says it dosen't. It is so confusing. I hope you find some answers. The photos you see on the internet are so precise and don't really look like my daughter's. I can't see a definite border all the way around hers.

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There is a disorder that is indicated by "Ragged Cals"

I Googled "ragged cafe au lait" ... here is a sample of what I found....

http://jnci.oxfordjournals.org/cgi/content/full/98/5/358

McCune-Albright syndrome
....http://www.springerlink.com/content/pveun519uhpj04mv/

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Here a link with some pictures (dutch)

http://www.dermnet.com/thumbnailIndex.cfm?moduleID=11&moduleGroupID=275&gro upIndex=0&numcols=0

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Hi,

Thank you for the links. I think his are more like the tiny ones in the first photo in the link provided by Frenscisca. Not the larger one, but the tiny ones. And his are smaller and very faint. My fear is that they will grow and get darker.

I took him to yet another dermatologist. This one I have known for years, unlike the pediatric dermatologist at the children's hospital. The latter dermatologist simply said "No, it's not NF." Which was surprising to me because she'd seen so many cases. At the same time, my husband feels that she should then be the one to be believed, since she has the experience. I don't know why I continue to worry.

But I did take him to see another dermatologist. She felt that ultimately it would amount to nothing, as well. She said she wasn't entirely comfortable saying it was nothing though, and would monitor him every three months. She did repeat what the other doctor had said, that there are people who just have cafe au lait marks. She said she has them too and her mother is a pediatrician and was worried about her too. She said though because she is a mother, she knows that she would want to know for sure.

So, that's that. We have an appointment with the second NF doctor in April. This one is Dr. Yeboa in NY. I don't know when to stop looking and when I can comfortably accept that he is okay. One very smart woman on this board said to give it six month and then revisit it. I had already made the appointment with the second NF specialist in NY, so I didn't want to give that appointment up and then wonder if I should have kept it.

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Hello Snazzysox,

For NF1 you need 5 or more cafe aulait spots in a size that's bigger than 0,5 cm.
Here in the Netherlands we can go to a Geneticist.
They can look at your son's blood if there is something wrong with chromosom 17.

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It sounds like you are doing everything I did. Remember the internet is a very scary place. Usually the worst cases are reported and are the first to pop up in a google search. I have found my piece of mind knowing that a large majority of people live normal child/adult lives with no major complications. My son was born with a small number of CALs. Today, at 22 months he only has approx. 8 or 9 small light brown spots, most of which do not fit the diagnostic criteria. My gut told me not to trust exactly what I heard from the doctors and to be his advocate. It sounds like you are doing this. Maybe for the time being, since no other medical conditions are present, you continue to press forward and focus on things that could be overlooked, such as developmental delays. I believe all states offer Early Intervention from birth to 3 years of age. Children who have NF are also likely to develop learning disabilites and Early Intervention is well worth it.

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I know i'm late on this topic, but if you still haven't found any pics yet I have some of my son that were updated in feb of this year. everyone is different, just remember that.

hope it helps you a little. :o)

neurofibromatosis and tuberous sclerosis 2009

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Thanks for showing those pictures. What is Tubuler Sclerosis?(sp)

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I was told by the geneticist I went to see that the CALs associated with NF1 also tend to be elliptical.

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