Hi, All. :-) We have never had our almost-5-year-old daughter formally diagnosed with her specific type of ichthyosis; however, I have always assumed nb-CIE as she is mildly red, chronically itchy and seems to build up very quickly. She was not born with a collodian membrane, and onset of unusually dry skin was obvious within the first two weeks (belly button stub wouldn't fall off either). If she sweats, it seems to be only from the scalp, and she overheats in direct sunlight over about 72 degrees (around 80 in cloud cover). We live close to Denver, and what is available in the way of providers and diagnosticians is very limited and has led us wrong in most every aspect. At about 18 mos old, our daughter suddenly went from 90th percentile weight to 50th and down to 25th. We had a pediatric GI run the gamut of tests to find nothing (normal liver function, too...but that was only 18 or more mos into her life). She is also very hypotonic and met most of her physical milestones very late. She did not walk until almost 2 and had extreme pronation of her feet. Her low muscle tone is generalized throughout her body, and she has been in PT since age 2 with good progress. She still has balance issues and scapular winging...also still slight pronation of the feet. As she is aging, she is looking quite thin (we haven't been in for her 5-year check which will be in July, but she is only 36 lbs). Height seems about average to slightly below compared to peers. I had read at some point that some types of ich can cause low muscle tone and weight issues due to skin cell production in high gear robbing the energy needed for development as well as the nutrients lost in water evaporation. I am not, however, seeing a lot mentioned about low muscle tone and weight loss in this forum and have always been a little concerned about Neutral Lipid Storage Disease. I realize it is considered rare, but her symptoms fit those outlined on the FIRST page spot-on (with the absence of info as to the size of her liver). Some note mental challenges with this disease; however, our daughter is remarkably intelligent.
Ultimately, I guess I'm looking to find out where in the US I can take my child to get good information, care and diagnostics. Obviously, I would be relieved to rule out Neutral Lipid Storage Disease. Also, has anyone else experienced weight loss and/or low muscle tone?
Thank you so much for reading this far and for any help provided!
Edited by Leandra (06/02/10 03:39 AM)