Hi, I'm not entirely sure I'm in the right place, but I've got to give it a try. =)
My three year old daughter, Charlotte, was diagnosed with a large epidermal nevus, palmoplantar keratoderma, and woolly hair last year. We have been working with a pediatric dermotologist, a couple geneticists, and a few other specialists to determine what syndrome/mutation she has. She has tested negative for epidermolytic hyperkeratosis, Naxos disease, and Carajaval syndrome. But we have no other answers.
Right now she is a healthy little girl, although there are concerns about heart problems, as there can be a link between PPK and woolly hair to cardiomyopathy. So Charlotte receives yearly echocardiograms and EKGs to monitor for that.
Anyway, I was hoping that there might be someone on here that has experience with any of the above symptoms/conditions. I, obviously, want to do whatever I can to help Charlotte, but I'm really not sure what steps to take next.