Hidradenitis Suppurativa USA

HS-USA

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HS and Genetics

Posted by rick on May 15, 2011 at 3:34 PM

I have posted this as an informational item only. We are attempting to vet this information for its authenticity. Once we have verified the information I will add it to the appropriate catagory.

http://www.2n2u.com/2011/03/confirmation-by-exome-sequencing-of-the-pathogenic-role-of-ncstn-mutations-in-acne-inversa/

Depending upon how you read this, there is some implication by the author that a "cause" for HS has been found in the geneome.  If this proves to be true, then the door has been opened to for a possible cure.  However, the study does not address the occurance of HS in individuals with no famly history.


Rick H.

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14 Comments

Reply rick
6:46 PM on May 2, 2012 
Ok,. I do not know why, but the original link has been removed and I can not relocate it. Here is a summary of the Genetic information . I am trying to get the original back .... or a complete copy!

Sorry for the confusion!!

http://www.ncbi.nlm.nih.gov/pubmed/20698881

Exp Dermatol. 2010 Sep;19(9):851-3.
Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 region.
Al-Ali FM, Ratnamala U, Mehta TY, Naveed M, Al-Ali MT, Al-Khaja N, Sheth JJ, Master DC, Maiti AK, Chetan GK, Nath SK, Radhakrishna U.
Abstract

Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition characterized by swollen, painful, inflamed lesions in the axillae, groin, armpits and other parts of the body that contain apocrine glands. The aetiology of HS is unknown, and earlier reports indicate genetic locus responsible for this phenotype on chromosome 1p21.1-1q25.3, but no causative gene(s) have yet been identified. We studied two large multigeneration pedigrees (UR251 and UR252), in which the condition appeared to segregate as an autosomal dominant trait with 100% penetrance. No skipping of generations was observed in either family. Pedigrees consist of 96 individuals, including 25 affected individuals. Because of squamous cell carcinoma, a few deaths were reported in family UR0251. The locus on chromosome 1p21.1-1p25.3, known from previous studies is associated with HS, was excluded in both families by linkage and haplotype analyses. Further studies are in progress to identify the region that is associated with the phenotype in these families.

PMID:
20698881
[PubMed - indexed for MEDLINE]
Reply Brooklyn
10:35 AM on May 2, 2012 
Sorry Cathy if I sound harsh - but how do you really know who in your family has this disease? It has so often been referred to as the hidden disease - why because people were ashamed of the very nature & symptons of this dreaded illness. I wonder have you asked around your family to see if anyone else is suffering in silence? Now this is where we must help ourselves - Don't be shy, don't be embarrassed - tell people & get them on board - this is an illness like any other & we deserve money & research to be spent on finding the reason & a cure. Make a noise & make people aware. If only the medical scientists would take on board this disease, if they found a cure their name would forever be up in lights - like Madame Curie discovering penicillin - There are millions of people from all over the world suffering from this debilitating disease - with all the associated side effects. We need to shout & shout out loud. Write letters to your congressmen etc., M.P's, T.V stations which show medical programmes - Magazines etc. Get the word out - If nothing else, it helps to take your mind off the pain & stops the morbid & depressing thoughts. My motto is - I may have H.S. but it hasn't got me. I'm a lot older than most of you on here, but if you will take one piece of advice from me is - Try not to STRESS - easier said than done, but I've found Stress is a killer when it comes to this rotten disease.
Reply Brooklyn
10:21 AM on May 2, 2012 
Kathy says...
Like reading a foreign language.

First, I really hate when they call it "acne inversa"...makes it seem so...minor.

Second, I am fully convinced that HS is an auto immune disease, guess that can be genetic, but no one has this crap in my immediate family, so it's hard to say. I guess my opinion is, if society could quit walking and donating to diseases that have a 90% cure rate, maybe there could be more research on orphan diseases like HS. I know I'm bitter, but if I had a disease that would be treated or I would die from it, it would be easier to handle than being ignored. It's an embarrassing enough disease, to have the medical community ignore it so just makes it worse.
Reply Jenell Scherbel
3:24 AM on March 1, 2012 
Rick, thanks for posting that, but it's now removed from that site. I tried to find the article on other sites, but all require either membership (Dermatology associations and journals) and many of us are not medical personnel.

Can you summarize the genetic findings? I'm interested as I had hidradenitis supperativa ages 12-19 and at age 19 had complete surgrical excision which was successful. My grandmother on my dad's side also had this.
Reply Jenell Scherbel
2:49 AM on March 1, 2012 
KrazieStarz says...
It is depressing that people/doctors dont try to investigate further and try to find a cure..and its very upsetting when doctors don even know what it is..after seeing a doctor that told me he didnt know what was wrong with me..i went to a different doctor and she told me about hs..she didnt give me any information..she just wrote the name on a paper and handed it to me saying "i think this is what you have, you should go on your computer and look it up and see what you can do about it"...i was like REEEAAALLYYYY???? -___- its soo upsetting..i later on went to a dermatologist and she gave me oral antibiotics and a powder to put on my armpits it was to treat "athelet's foot" so i have no idea..its frustrating..i dont think mine is genetic because none of my family members have it...who knows..


DO go and look it up. The Wikipedia page on hidradenitis supperativa has lots of info! If a dermatologist hasn't helped much, you may need a more serious skin specialist. I was finally helped only by surgery that excised the sweat glands completely but I understand that's usually only used for the most extreme cases. I had it for 6 years before I had the surgery. I had to wear bandages under my arms every single day because the abscesses drained constantly. So I had Stage III or whatever was the most extreme. If you want a doctor to take it seriously, remind them that, in fact, death can occur if it is allowed to progress to these final stages. My grandmother died at age 45 with it and other complications. It is genetic, I believe (see the Wiki page). You may have had some ancestors with it, but it's a disease that causes some personal shame such that people feel bad because they have sores like this continuously. So, any ancestor who might have had it may not have told others. See some of the other comments in this regard. Keep going to doctors and keep trying treatments. There is a last resort, though, which is the surgical removal of the glands. Just keep that in mind if other things don't work. The broad-spectrum antibiotics should help and it's my personal opinion that hormones that LESSEN androgenic activity (in other words, estrogen) can help. Apparently child birth helps and menopause, for similar reasons.
Reply Jenell Scherbel
2:39 AM on March 1, 2012 
Mariam says...
My doctor also said that it may be genetic.....but none of my close family members got it...i do not know what to do......when i browse internet. i found that lots of people with me, but there is no definite cure...i do one surgery at my left underarm....after 7 months of recession, it backs at my right underarm....my doctor gives me Cefixime & Clindamycin HCl orally......now it is curing....but i think it's not for long time.....can anybody suggest me what shall i do????


Mariam, please look at the Wikipedia page for hidradenitis supperativa (now called "inverse acne"). There is a lot of information there.

The broad-spectrum antibiotics may help, but will probably not keep the androgen system from overproducing the hormones that lead to the condition. I have always wondered whether, if it is caused by hormones (androgen/adrenal gland), then can it not be treated by hormones. I've heard that birth control pills actually make it worse, but was not able to know this in my own case. But it's possible that could help. If it's severe, and progressive, then you need to see a skin specialist and perhaps a plastic surgeon.
Reply Jenell Svherbel
2:34 AM on March 1, 2012 
[Kathy]


They don't care. We don't have a fatal disease and we don't have a glamorous disease..it's not exotic..it's not interesting..it's the bottom of the barrel crap that grosses people out...

Actually, Kathy, it can be fatal in the latter stages if it goes on long enough. I had hidradenitis supperativa under my arms continuously from age 12 to 19 before there were broad-spectrum antibiotics to treat the problem. Many things were tried and, as some now experience, nothing worked. Finally, my family doctor sent us to a skin specialist who was incensed that nothing had been done to successfully treat it by then. At his urging, I was scheduled for complete excision of the sweat glands from under my arms at age 19. I spent a month in the hospital, 2 major surgeries, one to remove ht glands, the second for skin grafts--both successful. That was in 1962. To this day, I have not had a recurrence, except that I do have some skin rashes sometimes from having to sweat other places (backs of hands, hairline). I cured that myself with dilute vinegar rinse solutions.

As others suggest, there is most likely a hereditary component. Look at the wiki page. My Czech grandmother had it and died of it along with other complications at age 45. There is a suggestion that she may also have been Jewish and her last name is found on the registry of jewish names of Czech ancestry. Sephardic Jews are among those with a possible genetic "predisposition" though I would say it's a direct inheritance. At least it would seem so in my case and in the case of the only other person I ever met who also had this.

it is a serious disease with very serious emotional and social consequences and generally onset occurs at puberty, a time when self-image is forming and greatly at risk if the individual has this problem.
Reply candi jones
6:10 PM on January 8, 2012 
I do believe it is hereditary. My mom had it but never told me she had it until after I was diagnosed with it. My doctor is trying to see if it's hormonal, but I got it between periods, and am on nothing that would alter my hormones.
Reply Mariam
11:31 PM on December 25, 2011 
My doctor also said that it may be genetic.....but none of my close family members got it...i do not know what to do......when i browse internet. i found that lots of people with me, but there is no definite cure...i do one surgery at my left underarm....after 7 months of recession, it backs at my right underarm....my doctor gives me Cefixime & Clindamycin HCl orally......now it is curing....but i think it's not for long time.....can anybody suggest me what shall i do????
Reply KrazieStarz
11:46 PM on December 16, 2011 
It is depressing that people/doctors dont try to investigate further and try to find a cure..and its very upsetting when doctors don even know what it is..after seeing a doctor that told me he didnt know what was wrong with me..i went to a different doctor and she told me about hs..she didnt give me any information..she just wrote the name on a paper and handed it to me saying "i think this is what you have, you should go on your computer and look it up and see what you can do about it"...i was like REEEAAALLYYYY???? -___- its soo upsetting..i later on went to a dermatologist and she gave me oral antibiotics and a powder to put on my armpits it was to treat "athelet's foot" so i have no idea..its frustrating..i dont think mine is genetic because none of my family members have it...who knows..
Reply mandy
2:14 AM on November 15, 2011 
I completely agree with the doctors and ignoring everything. I wanted to say that my mom had a spot on her breast and eventually did loose both of them due to "doctor's" not doing anything. I also wanted to add that mine started at 15 when I started my period. Its crazy due to my daughter who is now 15 but started at the age of 11 and within a month of started her period did not have one single spot. My mom's was a couple spots. Mine is several one of which I just had surgery on 3 wks ago. My daughter has more than I do but they are not severe like mine. I do think in my case it does have genetics invoved and something with hormone's as well. JMO though.
Reply Kathy
11:25 PM on September 26, 2011 
TXMom4Boys says...
I completely agree with you Kathy! Don't get me wrong, I donate and participate in many of the Breast Cancer awareness and research walks & such. It's very close to my heart. I proudly display the pink ribbon. But on search, I can't find any research, awareness or ribbons for HS. How are we supposed to hope for an effective treatment - much less a cure - if there is no awareness or support? For me personally it increases the depression....like no one cares.


They don't care. We don't have a fatal disease and we don't have a glamorous disease..it's not exotic..it's not interesting..it's the bottom of the barrel crap that grosses people out...
Reply TXMom4Boys
10:12 AM on September 24, 2011 
Kathy says...
Like reading a foreign language.

First, I really hate when they call it "acne inversa"...makes it seem so...minor.

Second, I am fully convinced that HS is an auto immune disease, guess that can be genetic, but no one has this crap in my immediate family, so it's hard to say. I guess my opinion is, if society could quit walking and donating to diseases that have a 90% cure rate, maybe there could be more research on orphan diseases like HS. I know I'm bitter, but if I had a disease that would be treated or I would die from it, it would be easier to handle than being ignored. It's an embarrassing enough disease, to have the medical community ignore it so just makes it worse.


I completely agree with you Kathy! Don't get me wrong, I donate and participate in many of the Breast Cancer awareness and research walks & such. It's very close to my heart. I proudly display the pink ribbon. But on search, I can't find any research, awareness or ribbons for HS. How are we supposed to hope for an effective treatment - much less a cure - if there is no awareness or support? For me personally it increases the depression....like no one cares.
Reply Kathy
12:34 PM on September 22, 2011 
Like reading a foreign language.

First, I really hate when they call it "acne inversa"...makes it seem so...minor.

Second, I am fully convinced that HS is an auto immune disease, guess that can be genetic, but no one has this crap in my immediate family, so it's hard to say. I guess my opinion is, if society could quit walking and donating to diseases that have a 90% cure rate, maybe there could be more research on orphan diseases like HS. I know I'm bitter, but if I had a disease that would be treated or I would die from it, it would be easier to handle than being ignored. It's an embarrassing enough disease, to have the medical community ignore it so just makes it worse.