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#16570 - 01/20/04 12:49 PM white smooth spots
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Do any of you adults with EHK have white spots that feel like normal skin on your body? My husband doesn't know when they developed, but e knows he did not have them as a child. They seem to be increasing with age - he is 28.

As I mentioned on another post, our genetic testing came back as normal for the hotspots on KRT1 and KRT 10.

Our geneticist at GeneDX thinks we have something really rare called "ichthyosis-en-confetti". Our dermatologist thinks that we have HK, but the mutation is on KRT1 or KRT10, but not on a hotspot, and possibly on KRT2e, but unlikely because the hands and feet are the most involved areas.

We don't know what to think. I want more children, but we both agree that it is unfair to the child to knowingly take a 50% chance that the child will have the disorder too. We are looking into IVF/PGD and also adoption, as IVF/PGD and even mniocentisis isn't an option until we have a gene.

Thanks
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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#16571 - 01/20/04 01:08 PM Re: white smooth spots
Anonymous
Unregistered


Jennifer,
If the mutation is on KRT1 or KRT10, then it is EHK. That is what I have and have had the same test results. As I remember it, if it were on the KRT9 gene you would have EHK palmoplanter(sp?), where the palms and soles are heavily involved. I can't tell you what the white smooth spots are, I've never had that.
Keith.

[This message has been edited by Keith Charsha (edited January 20, 2004).]

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#16572 - 01/20/04 04:02 PM Re: white smooth spots
Shirlil Offline
Member

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

We also are working with GenDex and we are told that KRT1 is mostly reponsible for Palms and soles. If only the KRT2e is affected, then it is usually a mild case. I also read an article that says chances are that and an off spring of a mildly affected person to have a more severe case.

Again, everything I have read points to one fact. No one really can predict what is going to happen for certain and how the manifesation is from a person to another.

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#16573 - 01/20/04 04:22 PM Re: white smooth spots
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
My husband is considered a mild case, but I have seen him get so bad that he literally crawls around the house because he can't walk. If that is mild, I don't want to know what severe is.

My child seems to be pretty mild...but our dermatologist tells us that he can get worse with age.

Interesting - KRT9 hasn't even been brought up to us - and Amy Paller is the one that is directing our genetic testing. If anyone would know, it should be her. She is one of F.I.R.S.T.'s board members.

We really think the problem is on KRT1, but won't know unless we sequence the entire gene, since the hotspots came back normal. But if it is this ichthyosis-en-confetti, the gene is totally unknown and could be anywhere.

The white spots are all over his thighs and upper arms. Recently, he has developed some on his lower back and shoulders. We don't know what they are, either.

Thanks!

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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#16574 - 01/20/04 09:58 PM Re: white smooth spots
Anonymous
Unregistered


Here is a website that has charts of the keratin genes. Scroll all the way down to the "associated" chart, it's a pinkish purple colored text. The KRT1 and KRT10 are the first two listed, you have to scroll down to find the KRT9. KRT9 and KRT10 according to this are both palmar plantar involved but are two different types. KRT1 is the noninvolved palms and soles. It's been awhile since I've talked about this and I had KRT1 and 10 reversed. here's the site: http://www.gene.ucl.ac.uk/nomenclature/genefamily/krt.html
Keith.

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#16575 - 02/02/04 01:07 AM Re: white smooth spots
Anonymous
Unregistered


Jennifer,
About the white smooth spots, I have them on my thighs. They aren't exactly white or smooth but they are lighter in color and the scale is "shorter" then the surrounding scale. I think it is small blisters that have peeled and healed or spots that I have scratched off and it has healed. It seems like they are lighter in color because they are "younger", I've noticed that the older scale is darker. It seems like flat spots compared to the other scaling. Do you think we are talking about the same thing? Let me know.
Keith.

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#16576 - 02/02/04 01:35 AM Re: white smooth spots
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Keith - do you regularly blister? My husband doesn't, and neither does my son, but I have seen blisters appear on fingers and toes on the baby if he rubs them together when they are wet.

Brian's spots are mostly on his inner thighs, but are also on his rear thigh, buttocks and lower back. Then they reappear higher up around his upper arms and collarbone/neck areas. There are a few on his calves and forearms, but not any at all on his hands or feet or face.

It is possible that they are the same thing, but I'm not sure - the spots don't seem to migrate at all, even with his daily ritual. They took a biopsy on one of them and it actually left a scar, which isn't the case on any of the other scale locations. Even a major car accident a few years ago left no scars.

Let me know what you think. THis is really the only site where I have gotten useful information from others that are coping with this disorder as well.

Thanks!
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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#16577 - 02/02/04 02:38 PM Re: white smooth spots
Anonymous
Unregistered


Jennifer,
No, I don't regularly blister, in fact I hardly blister at all but I do scratch alot. Scratching can cause the scale to break loose but not fall off right away until the skin underneath heals. When it does finally heal and fall off I have the small spots that are lighter in color and smoother, They are generally about 1/8" to 1/4" in size. I'll try and take a pic of what I am talking about and send it to your email address, I should have thought of that before. As far as scars go, I have a big one on my forehead that can only be seen when I get overheated or sunburned. I do have a scar on my back that you can feel but not see normally and the scale really sticks to it. Guess what it is from, you got it, a biopsy. I just edited this post, I took a pic of the spots I am talking about and attempted to send it to you but I found that you do not have an email address on your profile. When you read this post, email me(keithx1@earthlink.net) and I'll send it right away.
Keith.

[This message has been edited by Keith Charsha (edited February 02, 2004).]

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#16578 - 02/03/04 12:32 PM Re: white smooth spots
pauline5 Offline
Member

Registered: 01/06/02
Posts: 913
Loc: Melbourne, Australia
Hi Jennifer,


I just had to comment on what you said about your husband not being considered a severe case...It made me smile...

I also need to get around on my hands and knees sometimes...Especially late at night, when my feet are very blistered...and my husband can't carry me to bed.

I think our skin can vary from morning and afternoon, and be at its worst in the evenings, therefore most people don't see or realise how debilitating it can be...

I am definitely at my best in the mornings, and people find it hard to believe that I went to a special school as a child....But if they saw me in the evenings, they would be shocked how limited I am in my movements, and ability to do things with my hands...

Although the dermatologists consider me to have one of the worse cases of EHK they have ever seen, they are still surprised to see me turn up in my electric scooter sometimes...

The only people who truly know how our conditions affect us on a daily basis, are our families, and/or spouses, and US...

That was my very long way of saying that severity of skin conditions should be defined by the functionability of a person, not on how they appear to look...

All the best to you and your family
Love Pauline.

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#16579 - 03/04/04 09:18 PM Re: white smooth spots
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
I posted on that German ichthyosis board about the white spots and just got a reply today from a doctor. He asked me a few days ago to send him some pictures of my boys.

He agrees with the geneticist - he says that he has seen cases of this before, and that we have something really rare called ichthyosis variegata/ichthyosis-en-confetti/congenital reticular ichthyosiform erythroderma.

And naturally, that is one disorder that they don't know the gene for. And it is autosomal dominant.

I forwarded the email to my other dermatologists. I'm not really sure what to say. We were really hoping to find the gene so that I could have an unaffected child.

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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