Is this always cause for concern? - Mothering Forums

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#1 of 17 Old 05-13-2009, 03:53 PM - Thread Starter
 
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My almost 13 mth old has quite a few small cafe au lait birthmarks. There are at least 10 on his back, some tiny, some 5 or 6 mm. He has one on his thigh and one on his butt that are both 5 or 6 mm. There are other places I see what I think are extremely faint ones that no one else would notice, like on his belly. All in all, they're pretty faint. Until he was several months old, I couldn't even see them because he had that mottled newborn skin.

Anyway, I know that they can be related to neurofibromatosis (6 or more that are at least 5mm in diameter), but are they always? I'm taking him and dd#1 to the ped this week for regular check ups. Recently my dd #2 had some health issues and I asked for testing from this ped. Now, I'm starting to suspect that dd#1 may have celiac, so I'm going to find out about testing for her. But then I feel like a huge hypochondriac to bring up testing for ds, too, for some other condition.

I guess my questions are, if there are no other symptoms besides the birth marks, should I worry about it? And if you've dealt with NF, do you have any advice? He has one non-specific symptom, and that is a sensitivity to wheat or gluten, and I've read that some people with NF are also celiac, but it's not a sure thing. Do I ask for testing or should I wait? I don't even know what I would do with the knowledge that he had NF, though it could help me be more prepared for the future.

Thoughts? Thanks in advance.
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#2 of 17 Old 05-13-2009, 05:12 PM
 
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I have no real advice other than to definitely talk to your ped about it. That sounds like quite a few.

One of my kids has three small-ish ones. One of them has two, including a large one on his wrist (a lot bigger than an appropriate-sized wrist-watch would be), and he's had his share of issues (kidney defect, tethered spinal cord due to filum lipoma, etc.), but no one is worried about him re: the cafe au lait spots. It's hard to remember (just six months ago LOL) but I think that at least the neurosurgeon's nurse looked at them and thought they were ok, and separately we had a genetic consult and they didn't think anything of it. Personally, I have two such spots so I assume they got it from me.

So no, cafe au lait spots aren't always NF. With that many, though, I'd definitely want to investigate the issue, so that if your child did have NF you could research, prepare, etc. I really only have the vaguest notions about NF because it's been years since I did any reading on it.

Good luck - hope your child is merely spotted! The other day I was thinking one of my kids looked like a giraffe (though now I can't remember exactly why).
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#3 of 17 Old 05-14-2009, 10:51 AM - Thread Starter
 
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Thanks snowmom5 I will talk to her. At least it's something we can monitor even if we don't get testing right now. She tends to be very hands off, so I have a feeling she won't rec. testing right now. I'm not sure how I feel about it either way. Thanks again.
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#4 of 17 Old 05-14-2009, 01:19 PM
 
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My son has a big one and several smaller ones. When we were having serious FTT issues at about 14 months, the doc told us about NF. But said that it is usually clearly obvious early on (well before 1 year). I'd still show them to your doc, but probably wouldn't be too concerned unless you are having other problems as well. (besides possible celiac) I think if things hadn't started turning around for us, she may have tested.
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#5 of 17 Old 05-16-2009, 12:25 PM
 
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As a mom of a kid, now 11, with NF, I wanted to chime in.

Are lots of cafe au lait spots cause for concern? Not always, but it is very unusual to have more than 2-4 of them.

I'd disagree that NF symptoms show up early. For most kids they don't show up until later when other symptoms come about like the lisch nodules in the iris, freckling in the underarm and groin area, and learning difficulties.

My son is quite affected and we didn't get a diagnosis until we had an MRI which showed the characteristic brain changes. Most kids are not diagnoses in babyhood or even toddlerhood. Many adults have NF without knowing. It has such a wide range of severity among those with it that someone can have it with very few signs and someone else can have the most disfiguring hallmarks of NF and have the same disease. With NF though, even the mildest cases can progress to the most severe without predictability. It's a horrible condition that way.

Our son had a few spots as a baby, that's it. By a year we saw a geneticist who thought that he may have it because of the spots and a big head. We didn't get confirmation until the MRI at 2 which we asked for because we really needed to know. He developed fine for speech, walking, toileting, all of that. Now he is about 2-3 years behind in gross and fine motor, has multiple and severe learning disabilities, has a tumour on his spine and mild scoliosis around it, optic gliomas, and multiple fibromas and 2 plexiform fibromas. Other than that, and really those are easy to forget day to day, he's an absolute joy (he is remarkably wonderful), and healthy. He is almost never sick, and an easy-going kid. He has some issues with stress and figuring out social stuff.

Anyways, wanted to point out that babies and toddlers can have pretty subtle signs and still have the disease.

I hope that your little one is safe and sound.
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#6 of 17 Old 05-16-2009, 09:21 PM
 
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My ds has lots of cafe au lait spots too. This was my ds at 3 years old. I circled all the spots I could see. He also has some on his hairline (forehead) that I couldn't see at the time because of his crazy hair. LOL! I've noticed a few more as the years went on (he's now 5 1/2).

I've taken him to a geneticist who says he may or may not have NF. She said she could do genetic testing on him, but it's not 100% accurate and there is no cure for NF. She said if the testing came back positive she would recommend keeping an eye on him yearly, doing yearly eye exams and reporting any changes (like freckles in the armpit or groin area). She said if the testing came back negative she would recommend the same thing. To us- the testing wasn't worth it. He also has a bigger than average head and autism (which, obviously, comes with some delays). Those 2 may point to NF, but won't get him a diagnosis without more things.

For now we just do yearly eye exams (which we'd been doing anyway because he's got a 50/50 chance of having Retinitis Pigmentosa) and keep an eye on him. He had an MRI done at age 2 but it didn't show anything abnormal so that's positive

Steph, DH Jason (1-1-11), DS Owen (10-3-03) and DS Kai (10-13-11)

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#7 of 17 Old 05-18-2009, 02:45 PM
 
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Thanks for correcting me CarolynnMarilynn! I hadn't meant to give bad advice- just repeating what our doctor told us. I guess this is something we'll keep an eye out for too.
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#8 of 17 Old 05-18-2009, 10:42 PM
 
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Originally Posted by rugbymom View Post
Thanks for correcting me CarolynnMarilynn! I hadn't meant to give bad advice- just repeating what our doctor told us. I guess this is something we'll keep an eye out for too.
No worries!
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#9 of 17 Old 05-19-2009, 02:33 AM - Thread Starter
 
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Thank you for your replies. My ds's spots are similar to Owen's. Fairly small, but numerous. His are concentrated on his back, though. Our ped feels we should run the tests (I guess eyes, ears and blood??). We're waiting for some insurance stuff to come through before we get the referrals in the next couple of weeks. Our ped said that one of her children was similarly spotted, so they got him a complete work up. Turns out, he does not have NF.

Carolynn, when did you notice your son's other symptoms (the freckling, etc.)?

Thanks again.
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#10 of 17 Old 05-19-2009, 11:14 AM
 
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DD has 10 cafe ole marks, however, both the genetics Dr and her pediatric dermatologist said that just cafe ole marks are not the deciding factor. That they should be at least 2 inches to even consider a NF cafe ole mark (no 100% necessarily, but little specks are not an issue) also The marks are usually on the limbs (arms and legs) of children with NF, and there is usually freckling under the arms and in the creases of the legs. Both of those where things that they both where very concerned about.

Chinese Pistache, i had never heard about the gluten or wheat tie, that is VERY interesting!

Here are some pics of dd. They are really old just fwiw, but the only ones i can find right now.

Here you can see a few cafe spots. On on her left inner thigh, one on the outside of her upper arm, and then one on the left side of her chest under her nipple. (they are very faint sorry)

And this is the best pic i could find of her eye.

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#11 of 17 Old 05-19-2009, 12:59 PM - Thread Starter
 
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Thanks, tbd. Most of his spots are the little specks. I think that total, of all the spots (which probably number 14 or 15 total), only about 5 or 6 of them meet the minimum measurement of 5 mm (and none of them are much bigger than that).

For those with NF, how big are your kids' spots?

And how do I know what testing to get? I read about the two types of NF and I'm not sure my ped is ordering all of the testing we might need. For example, she said nothing about an MRI. What should I ask her?
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#12 of 17 Old 05-19-2009, 02:05 PM
 
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Originally Posted by Chinese Pistache View Post
Our ped feels we should run the tests (I guess eyes, ears and blood??).
I would suggest really doing your research about these tests. As I said before- we did NOT do the blood tests on ds. Our reasons for that is because the blood test is not 100% accurate. Our geneticist said that if the test came back negative she would NOT say that ds didn't have NF. She would tell us that it's likely he doesn't have NF, but still possible he does so she would recommend continuing everything we already do (yearly eye exams, watching his body for changes, etc).

What we did do is yearly eye exams (which, as I mentioned, we'd already been doing for other reasons). We also saw an ortho surgeon to get an x-ray of his lower spine (to check for curvature of the spine... which he doesn't have). He has had an MRI before (at age 2), but it wasn't related to the possible NF at all. We will not be going back to the ortho (even though the ortho of course said to come back yearly ) unless we suspect something is going on. We will not be doing routine MRI's. If we suspect something is going on we'll get another MRI. We do take him to the eye dr yearly (he's actually due again really soon). And we continue to monitor his body for changes.

From everything I've read/heard it is likely for a child to have NF and have no other signs (other than the spots) until early teens, and then they develop other signs. So, we will continue watching and waiting as the years go by...

Steph, DH Jason (1-1-11), DS Owen (10-3-03) and DS Kai (10-13-11)

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#13 of 17 Old 05-19-2009, 03:15 PM
 
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I would seek a genetics Dr do perform those tests. a pedi just dosent have the same specialty training.



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Originally Posted by Chinese Pistache View Post
Thanks, tbd. Most of his spots are the little specks. I think that total, of all the spots (which probably number 14 or 15 total), only about 5 or 6 of them meet the minimum measurement of 5 mm (and none of them are much bigger than that).

For those with NF, how big are your kids' spots?

And how do I know what testing to get? I read about the two types of NF and I'm not sure my ped is ordering all of the testing we might need. For example, she said nothing about an MRI. What should I ask her?

Melanie- Mama to my super hero daughter superhero.gif bravely battling brain cancer. ribbongrey.gif ribbongold.gif  www.fightformaddie.com  and expecting 1sttri.gif 1/13!!!!

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#14 of 17 Old 05-20-2009, 12:58 PM - Thread Starter
 
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Thanks again. I really appreciate your comments. I'm researching the tests before I talk to the doctor again later this month.
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#15 of 17 Old 05-25-2009, 02:50 PM
 
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Just wanted to chime in as well. My DH, DD and one of my twin boys have NF1. I totally agree with everything that CarolynnMarilynn said. A lot of the symptoms didn't appear until my daughter was older. Her CAL's showed up about 6 weeks after birth (as did one of my twin boys). She has a plexiform fibroma that she's had since she was a baby, and an optic glioma when she was about a year old. She also has learning difficulties.

Do you have an NF clinic near you? If so, perhaps call them and see where to go from there? I have found, at least the doctors I've gone to, that know of NF or they've heard of NF, but really aren't sure how to "deal" with it, if that makes sense. At the NF clinic, my kids have yearly MRI's, as well as opthamologist exams.

As far as how big her CAL's are..She has a large CAL on her stomach,and other big sized ones as well all over her body. She also has freckling on her armpits and groin.
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#16 of 17 Old 05-25-2009, 04:53 PM
 
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Originally Posted by kalynnsmom View Post
Just wanted to chime in as well. My DH, DD and one of my twin boys have NF1. I totally agree with everything that CarolynnMarilynn said. A lot of the symptoms didn't appear until my daughter was older. Her CAL's showed up about 6 weeks after birth (as did one of my twin boys). She has a plexiform fibroma that she's had since she was a baby, and an optic glioma when she was about a year old. She also has learning difficulties.

Do you have an NF clinic near you? If so, perhaps call them and see where to go from there? I have found, at least the doctors I've gone to, that know of NF or they've heard of NF, but really aren't sure how to "deal" with it, if that makes sense. At the NF clinic, my kids have yearly MRI's, as well as opthamologist exams.

As far as how big her CAL's are..She has a large CAL on her stomach,and other big sized ones as well all over her body. She also has freckling on her armpits and groin.
Oh im glad you chimed in here

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#17 of 17 Old 06-24-2009, 08:20 PM
 
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My 4yo has 3 cafe au lait spots on the backs of his thighs, kind of symmetrical in position, had them since around birth.

At around age 2 he started getting these waxy-looking flesh-colored spots on his face, only about 1-2 mm across and usually in groups of 2, and not noticeable unless close up. He has a couple on his cheek, below his bottom lip, on his nose, and maybe on his forehead and eyelid. The neurofibromas described online always sound like they are a lump *under* the skin, whereas these seem to be on the surface. My sneaking suspicion is that it is NF, but maybe a mild version. Although, after reading this thread, it appears as though there is no way to tell how bad it can get. It may not even be NF, just birth marks and some kind of mole-like growths. I have different kinds of keratoses and so maybe it's related to that, but I read that keratosis is extremely rare in children, usually developing later toward adulthood and especially in older age.

His behavior is relatively normal, although he's not in any school yet so we haven't had THAT great litmus test of "normality". (Sorry, I'm kinda fearful of sending my first baby to school.) We practice writing and letters and he listens to books just fine, so I think his behavior is normal.

If he didn't have the teeny growths on his face I probably wouldn't even be that concerned, it's just that with the cafe au-lait spots makes me think that this *could* be something to think about.
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