lisch nodules?

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lisch nodules?

Postby vassiliki » Mon Dec 12, 2011 2:07 pm

Hi everyone,
it's been a while since my last post, being alone with two kids-husband had to return to his job on an island- has kept me so busy, plus I had almost put NF out of my mind, until today! A scheduled visit to John's neuropthalmologist and...we're back at square one. A quick reminder: Μy son John was diagnosed with an optic pathway glioma at the age of 16 months. He'a had chemo twice and has been stable for 3 years now, post chemo.He doesn't have cals, he has one freckle on his lower belly-just above groin-.He has been tested negative for NF at the UAB and we have no family history we know of. I also tested myself because I have one cal and I was also negative. John is now 8,5 and today the opthalmol. said she could spot some freckles on his left iris. They don't look like typical lisch, but they weren't there 6 months ago. They are grey in color (John's eyes are dark brown) and they're not elevated.She can't really tell if they are lisch nodules, so she said we should check again later...Now I'm freaking out again for two reasons. First, I need to know if John has it or not because the possibility of NF would exclude radiation as an option in case he needs more treatment for his OG. Last but not least, my 2 year old Mariana has a couple of cals.I discovered them when she was 3 months old and nothing else came up until now. She's developping normally, she's actually very advanced for her age, no other signs (a small head, speaking well, fine moter skills etc)so I stopped worryin...until today. Any ideas would be greatly appreciated...
Vasso, mom of 8,5 year old John and 2 year old Mariana, from Greece
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Re: lisch nodules?

Postby Orangecera » Mon Dec 12, 2011 5:45 pm

Well, I can understand why you would worry. There are some strange "half-signs" there, but I think you have to try to take a deep breath. If he was tested and it came back negative, that obviously is a very good indicator. Aren't those tests supposed to be over 95% accurate now? (They didn't used to be so good). With only one freckle "just above the groin area" I doubt that qualifies as the "axillary freckling" that counts as 1 of 2 "required" signs to diagnose NF. To have NO CAL's at all would be highly unusual in a person with NF. (Oh, and as for your daughter - did you know that about 10% of ALL people have 1 or 2 CAL's. So, that alone is no reason at all to worry about her. -- I have NF and I have a daughter with 2 CAL's who we are quite sure does not have NF -- they did a "family linkage study" which is like 99.9% accurate on her- it can only be done in families with multiple generations of affected people like I have).
Now as for the "freckles" - there IS such a thing as "iris freckles" and they are NOT the same thing as Lisch nodules. A well trained opthalmologist (ie: one who has lots of experience looking at lots of eyes with Lisch nodules, freckles and no "spots" at all) should be able to tell the difference I would think - but that may be hard to come by. So my point here, is that they could well be freckles and not Lisch nodules but I am not sure if you can find someone who can tell you "100%" for sure.
I really don't have much advice, just the knowledge I have about NF that says it is still "very unlikely" your son has it (and even less likely your daughter has it!). I don't know if you will ever find someone who can say 100% for sure unfortunately. :(
Hang in there. Glad to hear your son's health seems to be very good following his Chemo!
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Re: lisch nodules?

Postby seesnow » Tue Dec 13, 2011 8:18 am

Orangecera said much of what I was thinking! :mrgreen: CALs are so very common, which is why they need 6 or more to even count for one of the criteria. I can certainly see how your set of circumstances can make your blood pressure rise a bit, but prayerfully it's just coincidental. Nice to "see" you! :mrgreen:
Timmy's Mom

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Re: lisch nodules?

Postby vassiliki » Tue Dec 13, 2011 9:24 am

Thank you both for your replies. When she first saw the "spots" she said "Ican see some lisch" because she thought we had an NF diagnosis. When I said "Just a minute, tthat's serious..." and she understood John doesn't have an NF diagnosis, she took it back and said, they 're not typical at all, they look a lot like freckles she can see in many people's eyes but she was surprised because they weren't there before.
-Seesnow, I remember there was something odd with you and lisch nodules, but I'm not sure what it was! Do you know if they have aparticular colour or which is the way to identify them?
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Re: lisch nodules?

Postby seesnow » Tue Dec 13, 2011 9:43 am

Yes - I am the weird case for certain! According to more than one eye doc, I have the lisch nodules. Lisch nodules are rounded - more bumpy in nature, while iris nevi are more flat. Here is a link if you read down a few pages: http://docs.google.com/viewer?a=v&q=cac ... 6rb_CVlQBg

Anyway, I thought for years that I had a very mild case of NF and passed it onto Timmy. Then the UAB test came back negative much to my surprise. My geneticist said there is another test for $1600 or more that would give me a definitive answer, but insurance won't cover it and I'm not forking out that kind of cash when I have no real health issues. I have one itty-bitty CAL that isn't big enough to count. My one daughter has a few CALs and also areas of hypopigmentation, but tests negative at UAB. They told us Tim's case was actually spontaneous because he has NF in only 93% of his cells! Our geneticist was hoping that someone would pick up our family's case in a research study, but no such luck!!
Timmy's Mom

Satan doesn't care if you are Christian or not....as long as you don't act like one!


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Re: lisch nodules?

Postby vassiliki » Tue Dec 13, 2011 11:50 am

Seesnow, the article was very interesting. John's iris "spots" were detected only in left eye (unilateral?) which according to the article is rare. Maybe they could appear in right eye later or could this be an indication of segmantal NF (plus the absence of cals). All these sound so complicated, so many possibilities with so few certainties! As for your case, it's a pity they didn't try to research more!
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Re: lisch nodules?

Postby seesnow » Tue Dec 13, 2011 3:03 pm

I thought you'd enjoy reading that with all those possibilities! Nothing like adding to your confusion! :roll: My lisch nodules are bilateral - 2 in one eye and 5 in another. I would love to have some concrete answers, but alas...I get to wonder! :mrgreen: Our weird cases that don't seem to fit any mold are always the fun ones! Prayers that John's spots are just the iris nevi!! Let me know what they say down the road.
Timmy's Mom

Satan doesn't care if you are Christian or not....as long as you don't act like one!


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Re: lisch nodules?

Postby EllieB » Sun Dec 18, 2011 6:14 am

My son has NF1 and bilateral OPG, I've been told he has a spontaneous mutation. I have no cafe au lait spot nor lishe nodules but I do have freckle on my iris. My son's opthamologist tells me it's from sun damage. It does seem odd that your son only has them in one eye. Is it possible that it is his eye that is closest to the window in the car? I know that I have more freckles on one arm from driving. (A bit left field I know and not very scientific).
My son has regular eye appointments every three months and I know that his liche nodules turned up between appointments. There was never any question about what they were, he does however have a very easily diagnosed form of NF1.

Sending you very warm Christmas Wishes and I hope that all children with OPG have a very "stable" New Year!!!! (or could I dare to wish for a "shrinking" New Year).
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Re: lisch nodules?

Postby vassiliki » Sun Dec 18, 2011 9:25 am

Ellie B, my son has very many tiny dark brown flat moles all over his body. When they started showing up, about 3 years ago, I was worried so I took him to a dermatologist. She said he probably had a tendency to develop moles since my side of family has quite a lot of them but chemo has doubled or tripled them! When I researched eye freckles, I read sowhere they could be related to flat moles on skin, or even to the sun, but the thing is my son's iris spots haven't been classified yet!Anyway, your wishes are really appreciated here, wishing you a healthy New Year too!
Vasso
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