I'm new to the site as well. I'm not very familiar with xli, but I can tell you that my situation is similar. My son is now 28 months old. He, too, was born perfectly healthy without any complications. His skin condition also began to present at @6-8 weeks of age (his skin began to peel and his hair, eyelashes, and eyebrows began to fall out). The doctors suspected Netherton Syndrome, but Dane also tested negative. We were told that not all of the mutations in the gene have been discovered, so Dane may still have the syndrome. Like your son, Dane also showed normal labs, but we were told that each case is unique, so variations within the disorder can occur. I know that with NS, even if the test comes out negative, his hair shaft could prove NS (a term called bamboo hair), but this can show up much later. As of yet, Dane's hair shaft appears normal. We're now going to have another specialist evaluate him (he's been seen by so many specialists), but we were advised to go to UCSF, as they have specialists who are pretty versed in the world of ichthyosis.
I know this doesn't really help you, but I just wanted to let you know that you're not alone in your search. Take care and I hope you soon get the answers you so deserve.
Feel free to e-mail me anytime.
Originally posted by dana_do:
This is my first massage in this site. i have a 4 months baby boy.his birth was very easy. i went to the hospital on 10:00 and he was born at 1:50. if I didnt take epidural he would have been born after half an hour.
he was born with normal skin.
when he was 1.5 month old his skin started to peel. we went to the doctor and he said that he think it's xli. he took skin biopsy that tern out negetive. now he want to take some hair from him. i wanted to know if it is possible that he has xli if:
1. his birth was very easy.
2. all the tests were O.K and the estorial level was 1.02.
3. we dont have any boy or girl in our big family (more then 50 people) that has xli.
4. can i, as his mother being checked for carring xli?
5. can it be that the skin biopsy is negetive and he still has xli?
i hope you can help me.