Long shot - skin genetic defects/syndromes
Rose.9.6.03
member
One of my DDs is currently being seen by a geneticist and a pediatric dermatologist for a series of issues related to her skin and hair. We are still in the early stages of diagnosis, but she's definitely been diagnosed with woolly hair syndrome (part of her hair is super curly like African-American hair and part of it is straight). As for her skin, the two major contenders for diagnosis are epidermal nevus syndrome and incontinentia pigmenti - both have potential non-skin related complications (seizures, vision problems, gross motor delays, etc.). We're following up with a neurologist, opthamologist, and plastic surgeon in the next couple months. Although, DD is a healthy girl who appears to be on track developmentally - so we're hoping her concerns are going to be mostly cosmetic.
Anyway, I know that all the syndromes I've discussed above are rare, so it's unlikely that anyone on here is dealing with one of them. But if anyone is dealing with something somewhat similiar, I'd love to hear from you. Also, if anyone has any particularly reliable resources for info, please let me know. Googling is driving me crazy. 
Re: Long shot - skin genetic defects/syndromes
My DD was seen at Children's Boston for possible epidermal nevus. That was ruled out in favor of keratosis polaris (chicken like skin). It is very strange keratosis because it's mostly on her right side and very little on her left. She does have a white hypopigment area on her cheek and thigh.Tuberous sclerosis was also ruled out. The Children's dermatologist told me it could or could not be related to her delays but she didn't have a clear syndrome to point out to me.
What kind of epidermal nevus does your DD have? Does she have any white ash leaf spots? Any signs of possible developmental delays?
Is she getting a chromosome analysis done? or a microarray?
Thanks for responding!
I'm not sure of the kind of epidermal nevus - in fact, it's not been officially diagnosed. Charlotte has a large growth in her armpit that is dark, bumpy, thickened skin that gets easily red and infected. Unfortunately, the pediatric dermatologist is gone for the entire month of January, so she's not doing the biopsy until February. Charlotte also has a swirled pattern of discoloration on her right arm, right side of her abdomen, both inner thighs, and the back of her neck. It is light in appearance and not raised. She also has raised, colorless bumps on her wrists and ankles. And she has thick, red patches on her right palm.
I'm not sure what white ash leaf spots are - but I assume she doesn't have them because the doctors have not used that term with me.
As far as developmental delays, right now she seems to be on track. She had gross motor delays her first year of life, but those appear to be related to her torticollis. She was in PT and she was released when she was 13 months old. She also had some right side weakness and a facial palsy on her left side. An MRI when she was 7 months old ruled out brain injury/stroke. The right side weakness is no longer apparent and the facial palsy has been in recovery. Her speech, fine motor, and social skills have been on track since the beginning.
With regard to the chromosonal analysis/microarray - I have no idea. The determologist was talking generally about genetic testing, but I have no idea what it involves. We meet with the geneticist in the beginning of January, so we'll have to see what he says.
If you don't mind me asking how old is your DD and what are her developmental delays? Also, what was time-frame for testing/evaluation? I'm finding this process to go so.slow. We met with the geneticist this summer and couldn't get an appointment with our pediatric derm until yesterday. Now follow-up with all these other specialists isn't until another couple months. The pace is driving me crazy.
My oldest has epidermolysis bullosa, a rare skin condition where her first layer of skin isn't attached to the bottom layers creating blisters and fragile skin that shears off very easily. It affects her growth (because all the calories she takes in are going to healing her skin) and development (it's a painful condition so we are enrolled with early intervention to work on gross motor and fine motor issues). There is also a higher risk for skin cancers, immune problems and a variety of other issues.
It was incredibly helpful to find support online from other families going through the same thing. I know Google has been frustrating for you, but once you have the actual diagnosis try to find a family support group.
What hospital are you going too? Lots of families with EB kiddos end up going to Cincinatti.
I'm sorry that your little one has such a painful condition. That must be difficult for her and you.
We are at Cincinnati Children's. I know we're lucky that we're a 5 minute drive from one of the top children's hosptials in the nation. The pediatric derm we are seeing is Dr. Lucky - she's has a speciality in genetics. I know she's supposed to be one of the top in her field. So I feel like we're in good hands.
How interesting. My DD has left sided weakness (hemiparesis) as well as hypotonia which causes left eye ptosis and minor palsy (also improving).
DD's keratosis may or may not be related to her delays. It's hard to say. They don't follow the lines of Blaschko, more of an all over bumpiness that is slightly red. She doesn't have any other skin problems other than the two white spots. DH also has two white spots....so it could very well be hereditary.
DD just turned 2 and still can't climb well. She can't jump. She doesn't run well. She has minor hemihypertrophy which causes her to have an awkward gait. She is just behind the curve for gross motor.
Her speech is not delayed so much as her articulation is poor. She drops ends or beginnings of words. She is combining words into 2 or 3 word sentences now and even a few 4 word sentences. She tested right on target for speech not factoring in articulation.
She tests on target for cognitive, receptive, fine and social. Her memory is really good and amazes her speech therapist!
The testing takes a loooong time. We don't even have results back yet from her microarray. We started this whole process when she was 16 months. Two MRIs, blood work, swallow study, many, many specialists. She is now 25 months. Blood work takes 6-8 weeks to get back from the geneticist. It's a VERY frustrating process. I found it helps to keep all of her doctors in one network (Children's Boston). Good luck. I am happy to answer any more questions you might have!
All of the kids who have EB see Dr. Lucky too! She's a Godsend from what I hear. Good luck with the appointment. Keep us posted.