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#16563 - 01/16/04 10:35 PM Genetic testing
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Hello, I'm Jennifer, and new to this board

My husband has EHK. He was incorrectly diagnosed with lamellar because his parents are unaffected. We were told we had a 1/500 chance of me being a carrier, so almost no likelihood of having an affected child.

Well, In Dec 2002, our son was born. He is affected.

So now we have a new diagnosis - EHK. Since we would like to have more kids, we are trying to go through genetic testing so that IVF/PGD is an option for us. We have already had 1 round - they tested the hotspots on the KRT-1 and KRT-10 genes. Both came back normal. So now they are trying to figure out if they should test the whole gene or if they should test KRT-2e.

Is anyone else in the US using Dr. Paller in Chicago as their dermatologist? Has anyone else been through the testing?

And lastly, for those of you who are parents with EHK, how affected are your children? My son doesn't seem to be as affected as his dad, but our dermatologists are telling us that he could get worse with age.

Jennifer
_________________________
Jennifer
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"

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#16564 - 01/17/04 12:22 AM Re: Genetic testing
Deidra Offline
Member

Registered: 03/08/02
Posts: 162
Loc: Lancaster, Ohio USA
Hi Jennifer, I really can't help you much with the genetic testing question but I wanted to touch base because we are practically neighbors. I live in Lancaster, Ohio and my son has EHK. Like your husband, he is the first in the family to have it. He is only 11 years old though. My e-mail is dandee15@msn.com. It would be great to hear from you.
Deidra

[This message has been edited by Deidra (edited January 16, 2004).]

[This message has been edited by Deidra (edited January 16, 2004).]
_________________________
Dee

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#16565 - 01/17/04 06:25 PM Re: Genetic testing
Shirlil Offline
Member

Registered: 12/23/03
Posts: 22
Loc: L.A., CA USA
Hi Jenifer;

Our 41 day old daughter has been diagnosed with EHK. We have send her blood for genetic testing of hots spots of KRT1 and KRT10. We have not got the results back. If you like I will let you know of the results when we get it so that you have another point of view. it will probabaly be another 4 weeks.

My wife and I do not have EHK and our 6 year old son also is unaffected. So we were very surprised and shocked when our daughter was born. All the doctors I talked to and the articles I have read say that 50% of the time it is an instant mutation. If one of you have it, then the chances are much higher. If you like I can point you to some of those articles I found on the web site. They are hard to understand but you can get the core of what they are talking about.

Here is my e-mail address, maybe we can share some of our information, rasgari@msn.com.

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#16566 - 01/27/04 07:15 PM Re: Genetic testing
Anonymous
Unregistered


Dear Jennifer,

My mother was the first "mutation" of EHK in the family and incorrectly diagnosed with excema. Like your husband was told no chance of passing on the skin condition (back in the 60's). Only after I was born with the condition did they correctly diagnose the condition. At a young age I was leanring how to tell people that I had epidermolytic hyperkeratosis. I like to say it really fast to doctors who ask what I have. [img]http://www.ichthyosis.com/ubb/smile.gif[/img] When I was a child my derm. told me that I should marry a man with soft hands so my child wouldn't have the condition. Ha Ha. Later I found the chance to be 50/50. After I got married I decided that I wanted to have a child and that whatever happened I could handle it. I went through GeneDx for genetic testing. I couldn't tell you which gene(s) they looked for because my doctor never shared a print out, he just told me that my son would be affected. They took cells from my cheek and cells from amniotic fluid to compare.
Since this has gone on for 3 generations, I can tell you that in our cases it has gotten milder through the generations. My skin on my palms and hands isn't as thick as my moms. My son's hands are less thick than mine. To me there are two different issues on whether it gets better with age. First is blisters. My son gets blisters from clothing rubbing or simply sitting for a long period of time. He also has skin build up on his neck and hips. With age my dry skin on my neck and hips has disappeared. The second issue is thickness. Just like a callous gets thicker the more the skin is rubbed, I think my skin on my hands and feet gets thicker the more I use them. My son's hands are softer but then he's only 3 and doesn't do as many things with his hands. I still think that the condition gets better through the generations because it gets "watered" down. But who knows.

Hope my input has helped.

Take care.
Lisa

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#16567 - 01/28/04 02:28 AM Re: Genetic testing
Anonymous
Unregistered


Jennifer,
I have EHK also, first generation, in my case it hasn't gotten worse with age, I'm 38 now. I think most people will agree that it gets better with age. The infections are much less frequent but we're always going to blister. Lisa, I'm not sure if your palms are effected or not so I'm not sure what part of your hands gets thicker with more use. My palms aren't effected but the top of my hands get pretty thick. They seem to go in a growing cycle unrelated to how much I use them. They get so thick that the scales start to get in the way of themselves when I try to bend my hand and eventually the skin pulls away and blisters. Then it all starts again, unlike your hands mine stay thinner the more I use them. I think EHK does get more mild from generation to generation, I have met a few families at the conference and through chat whose children are more mild then themselves. It's definently not a proven fact just an observation.
Keith.

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