Cafe au Lait spots

jmelynnmarie

My son has several cafe au lait spots on his body. Our new pediatrician recommended that we take him to be screened for neurofibromatosis. Does anybody on here have experience with NF and/or cafe au lait spots? Thank you.

 

realisticdreams

JmeLynn12:

My son has several cafe au lait spots on his body. Our new pediatrician recommended that we take him to be screened for neurofibromatosis. Does anybody on here have experience with NF and/or cafe au lait spots? Thank you.

 

Take him to a geneticist?

P has some of those and I remember the geneticist noting all of her birthmarks (she has a couple different kinds) but no one ever mentioned that.  I just googled it and apparently i've looked it up before lol because the links are in purple.  I'll have to do a little bit of research, look forward to seeing who else contributes to this thread.

lite-bright

My DD2 has several. I think the count is three at this point, but they are all fairly small. She wasn't born with any of them, they've all developed over time. 

I've been very careful to pay attention to them and let my pedi know if a new one appears. Her advice has been that unless we reach a higher number (I think 5-7), they're just considered normal skin markings and there is no need to test for NF at this point. 

ppants

A former co worker of mine had a large one on her chest. I remember her saying she has benign tumors in her brain related to it, but I don't remember what her condition is. She would get MRIs to keep an eye on them.

macchiatto

I just had to google these ... my sister has several and my son Will has 2 or 3 now but I never knew to pay any attention to them. I guess this partly explains why the developmental pediatrician checked Alex all over for birthmarks as part of her exam? (He has none so she didn't say anything about why she was looking for them.)

Ginlyn0

I had never heard of this so I looked it up but I have several Cafe au Lait spots on me including one on my leg that is nearly the size of a baseball. I just never knew they were called Cafe au Lait spots. DD has at least one on the back of her neck which I joke about being in the shape of a genie bottle. Interesting...

jmelynnmarie

allierhiana1:

Our LO (8w) was seen by 2 dermatologists today because her entire body is covered with large COL spots.  They had never seen it so severe.  She is going to see a pediatric dermatologist for an official diagnosis, but it sounds like they are going to diagnose her with NF1. 

 

Where do you guys live? We will be making an appt with the NF Clinic at Children's Hospital, Pittsburgh. Our son has 4 quarter size spots and many more very small spots. Do you have family history?

 

newenglandmomm

I actually have NF1. I was around 3 when they finally diagnosed me with it. If you have any questions feel free to PM me.

MrsBalletStar05

I have a couple, my sons both have one on their lower abdomen.  My youngest also has some lighter spots as well.  No doctors have ever mentioned anything.

toddandleah

DD has enough COL spots to have her diagnosed with NF.  She gets 6 month eye checks with a specialist to check for Lisch nodules on her ocular nerves.  She got sick at 2 yrs with meningitis and through that experience she got many MRIs and CT scans which allowed us to also look for other NF symptoms and they found none.  She also lost her hearing to the treatment that saved her life, so the deafness that can accompany NF is a moot point for us.

Main response to the COL spots for us was the eye checks.  We chose not to do the genetic testing.

 

mommytoconnor

My devel peds and neuro asked about this and my son has a small one.  They said if they had several or if they change it could indicate neurofibromitosis or another disorder.

CaptainSerious

My son has Neurobibromatosis Type 1 (NF1).

Neurofibromatosis is a genetic disorder which affects the nervous system, generally causing benign tumors to grow on nerves within the body. The disorder is highly unpredictable, and there's no way to know how severe his case will be or when symptoms might appear. In general, hormone fluctuations have been correlated to increased symptoms, so there are certain times in life, such as puberty, when we might expect to see more growths or other symptoms.

Different symptoms tend to manifest at different ages, although there's no predicting which symptoms will appear in which patients.  For us as this time, perhaps the most concerning effect of NF1 is that it is believed to cause developmental delays or learning disabilities in about 25-50% of diagnosed children. We already know J has a speech delay, but otherwise he seems on target so far. We will have to watch him very closely for early signs of delays, so we can benefit from early intervention.

J is currently being monitored by the Children's Hospital of Philadelphia's NF clinic, where he is examined by a variety of doctors who specialize in all the different aspects that can be affected by NF on an annual basis.  There is no treatment for NF other than early detection of any troublesome symptoms (tumors in difficult places or which place too much pressure on various organs, malignancy, hypertension, scoliosis, etc.) and then treating those resulting issues.

If you'd like to learn more about NF, you may want to review this brochure we were given at the hospital: https://www.yvonnefoong.com/brochure/Child_with_NF.pdf. Other great sources of information are:

https://www.mayoclinic.com/health/neurofibromatosis/DS01185;

https://www.nfnetwork.org/; and

https://www.ctf.org/.

Once you know for sure that if your child does indeed have NF, you can be proactive about identifying symptoms before they become unmanageable.  It's best if you can get into an NF clinic, where doctors in all the specialties work together, but if that's not possible, then I would recommend starting with a good geneticist or neurologist.  Best of luck!

jmelynnmarie

Captain, that brochure is awesome! We are on the list to get into the clinic at Children's Hospital in Pittsburgh in December.  There are many of the other indicators that have been ruled out already. We'll see what comes of our visit. Thank you so much for the information! 

CaptainSerious

You're welcome. I, too, thought the brochure was very helpful, especially the part that talked about what to expect or look for at different ages.

Good luck at your appointment!