Page 1 of 2 1 2 >
Topic Options
#16991 - 05/21/07 08:06 PM EHK Subgroups
Sarah Helen Offline
Member

Registered: 05/31/03
Posts: 383
Loc: Twin Cities, Probably North of...
I didn't know that the two subgroups for EHK had even more categories. I found this article online today and thought you might be interested. If you already know this stuff, sorry for boring you [img]http://www.ichthyosis.com/ubb/smile.gif[/img]

In 1994, DiGiovanna and Bale separated the various clinical presentations of EHK into 2 primary types, including NPS (without severe palm/sole hyperkeratosis) and PS (with severe palm/sole hyperkeratosis) based on the presence or absence of severe palmoplantar hyperkeratosis. The 2 primary types were subdivided further into 3 subtypes each depending on the clinical presentations. Some of the subtypes have general involvement, while others are localized only.

NPS subtypes do not have severe palmoplantar involvement. Distinctions between the 3 NPS subtypes are based on different clinical presentations.
NPS-1 has normal palmoplantar surfaces, no digital contractures, a hystrix scale, a generalized skin distribution, no history of erythroderma, a positive history of blistering, and patients may have abnormal gait.
NPS-2 is similar to NPS-1. The only differences are a brown scale instead of a hystrix scale and a lack of gait abnormalities.
NPS-3 has no palmoplantar hyperkeratosis, no digital contractures, and is generalized in skin distribution similar to NPS-1 and NPS-2. In contrast, the palmoplantar surface in NPS-3 is hyperlinear, has minimal scale, and a thin white scale is most prominent on the trunk. Erythroderma is mild to moderate. NPS-3 may have gait abnormalities similar to NPS-1.
PS subtypes have severe palmoplantar involvement. The 3 subtypes are differentiated based on clinical presentations.
PS-1 has smooth palmoplantar hyperkeratotic surfaces, no digital contractures, a localized distribution of skin involvement (limited flexural involvement, truncal sparing), no erythroderma, a localized blistering, and no gait abnormalities.
PS-2 has smooth palmoplantar hyperkeratotic surfaces but has digital contractures, generalized skin involvement with hyperkeratosis most severe over the joints at both flexor and extensor surfaces, mild-to-moderate erythroderma, positive blistering, and may have gait abnormalities.
PS-3 has cerebriform palmoplantar surfaces, no digital contractures, a tan scale, generalized skin involvement, no erythroderma, neonatal blistering, and no gait abnormalities.
Causes: Defects in genes for keratin 1 and 10 are the cause of EHK. Defects in keratin 1 are associated with the PS variants; defects in keratin 10 are associated with the NPS variants.
_________________________
Sarah & Son
EHK & ARCI
"Today is the Tomorrow that you worried about Yesterday, and all is well"

Top
#16992 - 05/22/07 01:28 AM Re: EHK Subgroups
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
I hadn't ever heard about the subtypes. That's very interesting.
_________________________
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"

Top
#16993 - 05/22/07 06:50 AM Re: EHK Subgroups
pauline5 Offline
Member

Registered: 01/06/02
Posts: 913
Loc: Melbourne, Australia
Hi Helen, yes i was aware of this article, i have had it stored in my bookmarks for about 3 years now ... and I only just re-looked it up again...

MY TYPE IS PS-2

PS-2 has smooth palmoplantar hyperkeratotic surfaces but has digital contractures, generalized skin involvement with hyperkeratosis most severe over the joints at both flexor and extensor surfaces, mild-to-moderate erythroderma, positive blistering, and may have gait abnormalities.


What is your type? I am assuming you have EHK?

Pauline
p.s. here is the direct link Jennifer...Gee i keep misplacing it...now it will have permanent storage place...UNDER EHK SECTION
http://www.emedicine.com/derm/topic590.htm

Top
#16994 - 05/22/07 02:15 PM Re: EHK Subgroups
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
My family doesn't fit any of those types. Probably the closest is PS3, but it's a tossup between that and PS2.

PS2 - We have gait abnormalities, digital contractures, but no blistering, no general redness and the hands are not smooth.

PS3 - neonatal blistering, but not like most EHKers. Just a few blisters between the fingers and toes when wet, during the first year of life, but never since. But we have the cerebriform hands/feet.

I'm not quite sure what the family falls under, as we have had the genetic testing done, and we do not have any KRT1, 10 or 2e mutations.

Thanks for the link.
_________________________
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"

Top
#16995 - 05/22/07 02:45 PM Re: EHK Subgroups
Sarah Helen Offline
Member

Registered: 05/31/03
Posts: 383
Loc: Twin Cities, Probably North of...
Hey Ladies,
I was originally diagnosed with Bulous CIE when I was 9 or so then when I moved to the states I was told it was actually EHK.
I'm pretty much the model for NPS-1.
I get the blisters, less as an adult, and the general distribution as well as the abnormal gait (I walk like a penguin).
Do you know what a Hystrix Scale looks like?
_________________________
Sarah & Son
EHK & ARCI
"Today is the Tomorrow that you worried about Yesterday, and all is well"

Top
#16996 - 05/22/07 07:41 PM Re: EHK Subgroups
Curtise Offline
Member

Registered: 05/16/06
Posts: 115
Loc: Sheffield, UK
Hi Sarah Helen
My daughter Nina is 17 months and has EHK - one of the NPS types but not sure which. I think a hystrix scale refers to a raised ridge-like appearance (apparently from the Greek -or was it Latin?- for porcupine; charming!) I think I read this somewhere but I could be way off, I've read a ton of stuff and can only remember odd bits of information!

Top
#16997 - 05/23/07 03:08 AM Re: EHK Subgroups
pauline5 Offline
Member

Registered: 01/06/02
Posts: 913
Loc: Melbourne, Australia
Hey Sarah, sorry I called you by your last name earlier...

I WALK LIKE A PENGUIN TOO...My husband and I laugh about it at the end of a night out, I will walk alot slower than he does at the end of it...and he has Cerebral Palsy...

it is so funny...waddle, waddle...

Top
#16998 - 05/24/07 02:04 PM Re: EHK Subgroups
Sarah Helen Offline
Member

Registered: 05/31/03
Posts: 383
Loc: Twin Cities, Probably North of...
The interesting thing about my gait is that my Dad was an orthapaedic surgeon (knees and hips mainly). When I was a child I frustrated him endlessly by "not walking properly". My Mum finally told him off by telling him that I couldn't bend my knees.
Now that I am on the Soriatane and my skin is MUCH thinner I can walk normally but when I am tired or distracted I lapse into the old gait.
The other interesting thing is that I like cross-country skiing! You definitely can't waddle while doing that. [img]http://www.ichthyosis.com/ubb/smile.gif[/img]

[This message has been edited by Sarah Helen (edited May 24, 2007).]
_________________________
Sarah & Son
EHK & ARCI
"Today is the Tomorrow that you worried about Yesterday, and all is well"

Top
#16999 - 05/25/07 04:18 AM Re: EHK Subgroups
pauline5 Offline
Member

Registered: 01/06/02
Posts: 913
Loc: Melbourne, Australia
[QUOTE]Originally posted by Sarah Helen:
I like cross-country skiing!

Wow, you can cross-ski with thinned out skin...boy do you ever fall over...I couldn't do that, with thick or thin skin...wow wee...

Top
#17000 - 05/29/07 05:57 PM Re: EHK Subgroups
Sarah Helen Offline
Member

Registered: 05/31/03
Posts: 383
Loc: Twin Cities, Probably North of...
Hi Pauline,
I have been skiing since I was a little thing - there is much else to do in Winnipeg during the winter [img]http://www.ichthyosis.com/ubb/smile.gif[/img]
I don't have palmoplanter so the biggest problem I have is the blistering the tops of my boots can cause and blisters on the tops of my feet. I like the skiing because I don't sweat as much due to the cold air. I hate sweating because it stings so much!
_________________________
Sarah & Son
EHK & ARCI
"Today is the Tomorrow that you worried about Yesterday, and all is well"

Top
Page 1 of 2 1 2 >


Copyright 2012 Ichthyosis Information