Actually, Diane, we just got our biopsy results back and Nathan and Brian do NOT have EHK. However, since we've been running with the EHK diagnosis for the last year +, I have had lots of time to get familiar with it.
EHK is caused by 3 genes - KRT 1 and 10 are the types where you have it all over your body but it is worse in you hands, feet, and other joints.
KRT2e is the gene that causes EHK everywhere EXCEPT the hands and feet. Not sure about the other joints.
All 3 genes are part of a pathway that converts keratohyalin granules in the stratum granulosum (a lower level of the epidermis) into the waterproof waxy keratin found in the stratum corneum (the top layer of epidermis) that makes us resist water.
EHK people aren't waterproof and the skin breaks easily because the cells aren't tightly woven together like they are in normal skin. EHK people have too many layers that develop too fast and it causes some of the cells to break open "lyse" That is where the name comes from.
Epi = outside
dermo = skin
lytic = cells bursting open
hyper = too much/too fast
kerat = cells that have keratin
osis = syndrome
I don't know if Brian had the skin tearing off at his birth. His mom has a memory that frequently contradicts other memories, so we don't know what to believe. His dad has brain damage that caused amnesia. So all we have are birth pictures of him wrapped in the hospital blanket. And Nathan's case is so mild that you can barely tell he has it unless you look at his hands or sit with me and watch him scream when I file them. But, like I said, we have something that looks like EHK clinically, but the pathologist says that it isn't EHK because the biopsy didn't match. So we don't have a clue what we have. The best diagnosis we have heard so far is something called Ichthyosis Vareigata, which has about 5 other names because it is so rare that they haven't decided on one particular name yet. It is worse on the palms and soles than on the back of the hands or top of the feet, but the whole hand and wrist in general is much worse than the forearms. Any bendable surface is really dry and crusty and you can see a clear circular pattern on the knees and elbows. The rest is smooth like fine-grain sandpaper. And of course, in our case, Brian has little white spots all over his legs and arms and neck, and those spots feel like normal skin. Both white spot biopsies scarred, but the EHK biopsies (all 3 of them) did not.
So, not surprisingly, we are not candidates for PGD (no gene=no PGD). I saw that you are going forward with that. How is it going?
[This message has been edited by Hearsay (edited March 26, 2004).]
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.
email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"