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.
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"