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Biomarker for Diffuse Scleroderma skin has been discovered!


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Scleredema of Bushke


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#1 gladigo

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Posted 18 May 2008 - 01:22 AM

Dear all

Four years ago I was diagnosed with localised Scleroderma by the dermatologist who just a biopsy with not enough blood tests. At the same time, I was suffering from stocmach problems(reflux)and had a gastroscopy done. Actually it was Jan 2004 that I had the gastroscopy and in Feb of the same year I had the biopsy. I went to see the dermatologist after six weeks and was told that I have Localised Scleroderma. He showed me his medical book (pictures of people with localised scleroderma)and told me that I was lucky for it could have been systemic Scleroderma, the one that could affect a multiple of organs (heart, kidney, lungs etc) and he finished by telling me that if I want to know more about my condition, to search the net. I went home and started surfing the net and was very worried for as I happened to suffer from stomach problems, I thought that I have systemic scleroderma. Surfing the net suggested to seek the advice of a Rheumatologist, another expert in that field. A few weeks after the gastroscopy, I went for the results and was told that I had the inflammation of the oesophagus, the deudonum together with Hiatus hernia. It's then that I told the consultant that I am very worried about my condition and have been diagnosed as having localised scleroderma and wants to be referred to a Rheumatologist for a second opinion. This consultant was very helpful and he referred me to a Rheumatologist to whom I would be ever so grateful. The minute the Rheumatologist saw me, she asked me a lot of questions about how the hardness of the skin started, she sent me for a number of blood test and straight away without waiting for the blood tests' result, she said to me' I think that you have been wrongly diagnosed but did not tell me what my condition was. She said' I am going to refer you to the hospital which specialises in that condition'. I was referred to Royal Free Hospital in London and there I had a number of blood tests and this is how I was diagnosed with SCLEREDEMA OF BUSHKE.

I was told that this condition is a very, very rare one; one in a million. If you have the same condition, I would like to hear from you. It would be good to know how many people suffer from this condition worldwide. You can e-mail me personally and get to know more about this particular disease.

Kind Regards

Gladys

#2 omaeva

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Posted 18 May 2008 - 05:11 AM

Hi,

I just wanted to welcome you and say I'm sorry you got such the run around. And I'm really shocked to hear that the doctor wouldn't explain things to you and to go research on your own! Absolutely terrible. Glad you got the correct diagnosis eventually.

#3 anonym4444

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Posted 18 May 2008 - 11:41 AM

Hi,

I do not know if you do speak German...but I know (from my own research) one (male) person, that was (after 10 years of wrongly being diagnosed for all kinds of things) now diagnosed to have the Buske type mixed with diffuse scleroderma.

There is one website in Germany that has a meeting for especially that disease.

If you want I could also get you in contact with the guy who has it...he has recently heavily improved (he was short of the wheelchair) due to the right diagnosis and the right treatment which actually improved his skin. It is an off label use of some medicine precribed from the German Clinic for Diagnostics (similar to a Mayo clinic). The guy is very helpful...however due to his age I do not know if he is fluent enough in english.

The German meeting site is listed on sclero.org at Scleredema Adultorum Buschke: Resources.

There is also a doctor who seems to have specialised for this type of disease mentioned on that website.

I once contacted him and he referred me for a skin biopsy to the University Hospital of Ulm as they would like to have all biopsies done in one place to get as much information as possible about that special form....I know this may not help you...but maybe your hospital can contact them. Dr Pfeiffer is the contact person there. In my case I did not go in that direction as it does not appear to be scleroedema adultorum Buschke due to some of the symptoms.

The Bushke type according to the guy who has it, can be easily found out by skin biopsy and can be differentiated by skin biopsy from the diffuse type. Both show similar skin patterns but the Bushke type has something special in the skin (dont remember the name...I guess it was Muzzines...if that is also the english word for it).

The blood work for him was (even after 10 years) absolutely normal ... no ANAs, no special ANAs or ENAs...and all other general and rheumatic inflammation markers (of which I don't know the english abbreviations) were negative as well...so do not rely on the blood work only in that case.

K.

#4 bogari

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Posted 12 July 2008 - 03:31 AM

Hello I was recently told that I have this disease also. One in a million was what I was told. There are three different causes or types of this have they told you which one you have? Also have they given you any treatment options? They told me I could have radiation but after doing some research I decided not to have it. It didn't seemed to be a cure as much as it was a shot in the dark and with no idea if it would really help or not. I've decided that mine is really a symptom of something, what I and they, they being the medical community, don't know. I do know that somedays I feel fine and on other days I can feel the tightness all over. When I ask they just look at me and say they don't know why. This is what I find so frustrating I understand them not knowing but I get the feeling is that they have decided they can't do anything so I'm on my own. I know that they are frustated because I refused the radiation but as I said before I don't like the odds. I'm sorry you have it but at least we can compare notes

#5 Sheryl

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Posted 12 July 2008 - 10:26 AM

Welcome to our forums Bogari. I hope you learn and get the information you need while visiting this site and get to know us better. Here is our page on Scleredema Adultorum Bushke that you have been diagnosed with. We are all searching and learning and honing our social skills at the same time. You have come to the right place.
Strength and Warmth,
Sheryl

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#6 jefa

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Posted 12 July 2008 - 10:57 PM

Hello, Bogari. I'd also like to add my welcome to the Forums. Sheryl has given you the link to our page on Scleredema (spelled with an e). Keep in mind reading in the forums that treatment and care for scleredema can be different than that for scleroderma. But our forum is for people who are interested in scleroderma and related illnesses and symptoms, so you are definitely in the right place. Here is a link to an article from eMedicine which gives some information about this rare disease:

Scleredema

We have several members with this disease. You might try using the Search Forum option above to find threads which refer to it.
Warm wishes,
Jefa

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#7 Sweet

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Posted 14 July 2008 - 08:35 AM

Welcome Bogari!!
Warm and gentle hugs,

Pamela
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#8 bogari

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Posted 17 June 2012 - 04:18 AM

Well folks I am happy to announce that after 4 years of being experimented on my doctors have finally found something that works; it's called IVIg. I go once a month for two days of intravenous treatment. I have only had 2 months of treatments but the change has been amazing. I can lift my arms over my head after almost 6 years of not being able to. I can finally see what is over my shoulder and my skin has gotten softer. Still a little stiff but nothing like before. The only down side to the IVIg is a headache but I was told to drink plenty of fluids starting a couple of days before treatment and it has helped.

#9 Joelf

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Posted 17 June 2012 - 06:49 AM

Hi Bogari,

It's great to hear from you again and I'm so pleased that your doctors have found a treatment that works well for you and has made such an improvement.

I've never experienced this myself, but I know that we have other members for whom this treatment has been equally successful.

Do keep posting and let us know how you're faring.

Kind regards,

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#10 Shelley Ensz

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Posted 18 June 2012 - 11:31 AM

Hi Bogari,

Thank you for letting us know that you have finally found a treatment (IVIg) for Scleredema of Bushke, and that it is going well. :great:

I am very happy for you! Please don't wait another four years to follow-up, though. We'd be delighted to hear from you more often than that. :high-five:
Warm Hugs,

Shelley Ensz
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The most important thing in the world to know about scleroderma is sclero.org.

#11 Amanda Thorpe

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Posted 20 June 2012 - 03:01 PM

Congratulations Bogari on improving despite Scleredema of Bushke best efforts!

Take care and keep posting.
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