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Author Topic:   EHK
Diane Albone
Member

Posts: 38
From:Tongeren/Belgium
Registered: Jul 2003

posted March 26, 2004 07:35 AM     Click Here to See the Profile for Diane Albone   Click Here to Email Diane Albone     Edit/Delete Message   Reply w/Quote
Hi,

Actually i have a question!
I have got EHK. Friends who i talk to don't have it on there hands and feet. Is that then also EHK? Does it have different types in EHK? I have got it bad on my hands, feet and i get the blisters. I just was wondering about that! Also i noticed that last when i saw photo's of baby Nathan (he looks great!) he didn't have the skin hanging lose on him like my mum always descrived me at my birth.
Maybe somebody has got some advice?
x Diane

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Hearsay
Member

Posts: 801
From:Chicago, IL, USA
Registered: Jan 2004

posted March 26, 2004 09:02 AM     Click Here to See the Profile for Hearsay   Click Here to Email Hearsay     Edit/Delete Message   Reply w/Quote
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?

Jennifer

[This message has been edited by Hearsay (edited March 26, 2004).]

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Keith Charsha
Member

Posts: 466
From:Southern California U.S.A.
Registered: Aug 2000

posted March 26, 2004 09:23 AM     Click Here to See the Profile for Keith Charsha   Click Here to Email Keith Charsha     Edit/Delete Message   Reply w/Quote
Diane,
I'm not sure if you are asking about the palms and soles or the entire hands and feet. I have EHK, and my hands, feet, knees, elbows, and ankles are the worst spots, the rest of my body has it also but not as thick. My palms and soles of my feet are uneffected and my face is only mildly effected. My effected gene is KRT1. There is KRT1, KRT9and KRT10. KRT9 and KRT10 have heavily involved palms. I have never heard of KRT2E but I am not a genetecist, I do know that KRT2A is epidermalysis bullousa, which is much worse then EHK. Hope this helped.
Keith.

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Diane Albone
Member

Posts: 38
From:Tongeren/Belgium
Registered: Jul 2003

posted March 27, 2004 04:27 AM     Click Here to See the Profile for Diane Albone   Click Here to Email Diane Albone     Edit/Delete Message   Reply w/Quote
Hi Jennifer and Keith,

First i would like to thank you both for replying to quick! I know now what you mean with the KRT because when i went for my testresult to have chilren they where seaching witch KRT i had! So i can fallow a bit! My mum always said like oh no that is not the same as we have.. and i start thinking the same but now i know it is!

Keith,
My question was about the soles and palms (sorry my English writing is not so good)
Because i am starting to meet other people and they don't have it on there soles and palms. That's why i was wondering if it still was the same yes or no. Now i know! Thank you!

Jennifer,
Wauw what a explanation! Great! You make it sound so easy and if the doctor talks to me it sounds chinese! I really hoop that you will soon find out what Nathan has because it is hard living with a disseas but not knowing what is even harder! Well about my invitro. I have been the last time to the hospital in December and they done all sorts of test on me and Tom (my husband). Now i have to wait for a 1,5 year - 2 years. I am on a waiting list. In a 1,5 they will start the test in the hospital. That is the test to find the eggs (sorry i am not so good in explaining this to you as you are) what are not infected with EHK and then they can keep those. Anyway i really hope it will work out ok! Off course i will let you all know how it will turn out!

Thanks for my replies! Love Diane

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AngV
Member

Posts: 23
From:Sartell, MN
Registered: Nov 2004

posted March 27, 2004 12:25 PM     Click Here to See the Profile for AngV   Click Here to Email AngV     Edit/Delete Message   Reply w/Quote
After reading these explanations I am a little confused:

First of all: Good luck to you Diane with the invitro process. I had just learned about it this past summer and had actually started wondering if it was something I could do, then I ended up pregnant!! Surprise!! Anyway, most of you may know my prenatal testing -amnio did show my 3rd son will be affected, but I guess it was meant to be.

Keith -you explain that the KRT 9 & 10 have heavily involved palms and soles; however, when I had my testing done in december the results state that it is my KRT 10 that is the problems. My palms and soles are not affected at all and my face is very mildly affected also but everything else sounds exactly how yours is????

On my Gene DX report is states "a mutation affecting codon 156 of the KRT 10 gene(CGC-> CAC) in exxon 1 was identified on sequence analysis and confirmed by sequence analysis on the reverse strand of DNA, and by re-sequencing from a second aliquot of the DNA. This mutation is predicted to result in a change from Arginine to Histidine (R156H) in the resultant keratin 10 protein." It further goes on to say that "Arginine 156 is a hot spot for mutation in keratine genes." Also that there is a "strong association between mutations in the KRT1 gene with palm and sole involvement in EHK, while KRT 10 mutations in patients with EHK are usually associated with normal or near normal skin on the palms and soles."

OK, so now that I am TOTALLY confused - how can we know for sure what the mutations is if doctors are giving us different definitions and diagnosis but our symptoms and affected areas sound pretty much the same!!! Who did your genetic testing??

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Keith Charsha
Member

Posts: 466
From:Southern California U.S.A.
Registered: Aug 2000

posted April 01, 2004 08:31 AM     Click Here to See the Profile for Keith Charsha   Click Here to Email Keith Charsha     Edit/Delete Message   Reply w/Quote
Angv,
It has been years since I was told which KRT gene was mutated in my case. However it does sound like we have identical effected areas. Maybe my doc made a mistake, if I go by the keratin gene chart KRT1 is the only type of EHK that is not palmoplantar keratoderma. I am currently waiting for my latest genetic testing from the Ichthyosis Registry, I'll let you know what my results say this time.
Keith.

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