I implore you all to do the genetic test!

Many thanks again to the posters on this board for being a great resource.

I joined a couple months back because our 6-month-old son was clinically diagnosed with NF1 (armpit/groin freckling, multiple CALM). We saw an eye doctor; there were no lisch nodules.

We did the UAB genetic test. It came back negative. Our geneticist continued to insist that our son had NF1. We told him we wanted to do a genetic test for Piebaldism, as our son also has the trademark white forelock and a hypo-pigmented spot on his knee. The doctor basically told us we were wasting our time doing the Piebaldism test, but that he would order it to placate us. (I should add that the suspicion of Piebaldism resulted from our own research; the geneticists were totally fixated on NF.)

Lo and Behold: the Piebaldism DNA test came back positive. My wife is now being tested because her 1st cousin, once removed has the exact same manifestations (but no CALM or freckling).

Thus, according to our experience, I conclude that the clinical criteria for NF1 are too general. In a few years, once the volume of genetic information increases and the CALs and freckling as phenotypes can be more easily correlated to non-NF genetic mutations, "wait and see" consultations like ours will probably be less common.

I stress again: if it is at all financially feasible for you, DO THE TESTING. It will a) help you to more accurately determine and treat your child's condition and b) in the long run, allow doctors to better diagnosis future children manifesting (today's) clinical criteria for NF1 and helping other families (maybe even yours) down this frustrating road.

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CALs and freckling aside, I don't understand why NF would have been their first thought... the white forelock should have narrowed the search pretty much right from the start. Honestly, IMHO it should have been a dead give away...particularly if there was any family history. I'm sorry if you mentioned the white forelock in your first post and I missed it.

Anyway, glad it isn't NF!

Cindy

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Hi Cindy,

Yes in retrospect, it should have been a dead giveaway. When our son was born, he had the white forelock but we didn't make much of it other than for my wife to point out that her brother had the same thing when he was born, and then it went away. As our son's hair grew in, it basically covered the white forelock and it was really only visible when scrutinized in the light. Out of sight, out of mind - so I never even thought about it, let alone mentioned it in my original post. Maybe overlooking it was careless on our part, but that is why we pay people who have medical diplomas hanging on their walls - because they are supposed to know better.

When our pediatrician started warning us about CAL spots and freckling, we became consumed with observing those (as I'm sure many others have done). It seems that the doctors are quick to offer up an NF1 diagnosis based on the clinical criteria and put the "wait and see" stamp on many cases like ours. I was overseas for work during the first meeting with the geneticist but my wife did point out the white spot on our son's knee and the white forelock; the geneticist counselor pooh-poohed it. NF1, they insisted.

One evening, I was looking at his white spot in detail; it really stood out for me for the first time as something to investigate. I mentioned it to my wife and she said that it was raised and rejected with the geneticists. I did a quick google search of hypopigmentation and neurofibromatosis and discovered several reports warning of mis-diagnosis of NF1 when the condition is in fact Piedbaldism. Obviously, this piqued my interest. When my wife then informed me of her 1st cousin's daughter having the same white spot on the knee (which her doctors at the time incorrectly postulated was vitiligo), I went ballistic!

Even after the NF1 genetic test came back negative, during our 2nd consultation, the geneticist was convinced that the Piebaldism markings were inherited but the CALs and freckling were an unrelated NF1 mutation. Thank goodness we (especially my wife) insisted on doing the Piebaldism genetic test. We are waiting to see what phenotype correlation can be made, and also we are testing my wife to see if the mutation is in fact inherited from her.

So again, I urge everyone to be as meticulous as possible; leave no stone unturned. I know it is overwhelming and sometimes it seems like the only thing to do is keep counting and recounting your precious little one's CALs. But these clinical criteria may simply not be sufficient.

Cindy, a special thanks to you for your dedication to the many people on this board searching for answers and support.

Anyone in a similar position who feels they could benefit from our experience, please do private message me on this forum, I will be happy to help.

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Yes, very strange that Piebaldism would be confused with NF. They look nothing alike. Great news that your child does not have Nf!

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I often think about trying to save the money to do DNA testing for my son. He is 2 1/2 and was diagnosed w/ NF-1 over a year ago because of multiple CAL's and he has a lesion on his side. Other than those two things though, he does not really fit any of the other criteria for diagnosis.. Sometimes I think maybe he has something else, or nothing at all.. But then I think it is probably just wishful thinking...

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Actually Cammi they can look surprisingly alike in some cases though sometimes there are subtle differences and its just too bad that in this case the doctor didn't have an aha moment as soon as the white forelock came up, especially when there was a similar pattern in the family. It's a very unfortunate and unique situation...though there was someone else posting not too long ago with a family history of piebaldism.

darkardad, I'm sorry that you had this unnecessary rollercoaster ride. May I ask if the freckling and Cals were mostly congenital or if they developed within a couple of weeks after birth?

My daughter has so many colors I'm sometimes not sure if she's got brown marks on a white background or white marks on a brown background! And to complicate matters parts of her seem to be lightening up....pigment is such a bizarre thing!

Cindy

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Hi Cindy,

The white spot and forelock were at birth, as were one or two of the CALs. The rest of the CALs and freckling came in the first few weeks.

Wishing the best for your daughter!

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Hi again!

Cindy, I wish the best for you and your daughter, and hope you'll get the answers.

dakardad, the news is awesome! As far as I know, piebaldism is a benign disorder. I am sorry you had to go through this NF thing.

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The images that I brought up during a search were just white patches??? I didn't see anything that looked like cals in my search. It looked almost like vitaligo??

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http://www.dermnet.com/Piebaldism

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Cindy,
Does it matter when the cafe au laits appear? My son was born with on large one on his back. He is 10 and only recently developed the axillary freckling and other cals. We are debating whether to do the genetic testing. Our neurologist is not recommending it. I vacillate back and forth between the wait and see and the "I need answers now!" moods.

Kim

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I did the testing on both of my kids. I'm glad I did because now I know. The only issues my little ones have are CALs and groin freckling. They don't have any other signs/symptoms, but the genetic test came back quickly. I agree...you should do the test!

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Cammi, You can see from some of the photos already posted why there might be some confusion in some cases. Check out the axillary freckling in this article.

http://www.nature.com/jid/journal/v122/n2/full/5602160a.html

I have seen some people with piebaldism where the features are just a white forelock and some patchy hyperpigmentation, I've seen others where it was pretty obvious and the hair had many patches which were quite eye catching.

3peanuts, Do you mean that your son only has one CAL now ?

My take on it is that the timing of the CALs and freckling is largely irrelevant in NF though a later and more sparse presentation might denote mosaicism. Most NF kids that have the freckling seem to develop it in early childhood and some seem to get it around puberty. It can occur very early on in NF, but the fact that this child had it as early as a couple of weeks maybe should have raised the index of suspicion even further when coupled with the white forelock. White forelock is not exclusive to Piebaldism either, it also occurs in the Waardenburg syndromes....I guess this doctor just saw brown spots to the exclusion of anything else. I suppose if we are to look for a silver lining, its a good thing that he/she at least recognized the signs of NF....lots can't even do that!

Cindy

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http://genes-r-us.uthscsa.edu/
The National Newborn Screening and Genetics Resource Center (NNSGRC) is a cooperative agreement between the Maternal and Child Health Bureau (MCHB), Genetic Services Branch and the University of Texas Health Science Center at San Antonio (UTHSCSA), Department of Pediatrics.

We provide information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.

http://www.ncbi.nlm.nih.gov/sites/GeneTests/review/disease/neurofibromatosi s?db=genetests&search_param=contains

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This is all so interesting....It was me who brought up the family history of white forelockes etc. I also brought up piebaldism to the geneticist and they disregarded it. Our nf1 and spred test were negative. My daughter does not have the white forelock but her aunt and uncle do. And she has a white patch on her knee. Anyway i know dakardad went o a very well regarded nf doctor in nyc and I went to a popular geneticist. Interesting that the both discounted it.

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Lev77,

In the end we cancelled our appointment with Dr. Yohay when the NF genetic test came back negative.

However, I would urge you to go TODAY to your geneticist and order the Piebaldism genetic test from the University of Colorado Denver. It costs something like $850 or $900.

When it came back positive, finally the geneticist consented that our hunch was correct.

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