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Biomarker for Diffuse Scleroderma skin has been discovered!


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My story so far!

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#1 Jeena

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Posted 10 March 2013 - 11:45 PM

Hi Everyone
I have only recently found this site and am finding the information really helpful.  I am 54 and was diagnosed with morphea by my GP a couple of years ago when I developed a large oval patch with lilac edges under my breast followed by a couple of others on my trunk. 

 

I had already suspected this was the diagnosis after looking up my symptoms on the web and readily accepted the reassurance that it would clear up in time and no treatment was necessary.   Over time more patches have developed all on my front and back plus one patch on my inner wrist. Some of the patches are really itchy and GP has given me some steroid cream to apply which has had some limited effect.

However late last summer I also developed a lot of joint pain plus fatigue.  I had a number of routine blood tests plus an antibody test which were all within normal range.

Since then the joint pain has increased especially in my arms and hands . I am no longer able to straighten fingers or make a fist and my fingers are painfully curled all of the time.  I am also unable to bend both wrists and my lower legs are painfully stiff and my toes feel similar to my fingers.  It has also become difficult to stand from a sitting position and my joints stiffen if I stay in the same position. Night time is especially painful.

My GP referred me to a rheumatologist who initially felt the problems were due to trapped nerves in my neck however an MRI scan has now ruled this out and I am awaiting a further appt.

I am just wondering if any of my problems could be related to the morphea.  The rheumatologist was not really interested when I told him I had this.

Any thoughts or advice would be greatly appreciated.
Thanks and best wishes..



#2 Amanda Thorpe

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Posted 11 March 2013 - 05:31 AM

Hello Jeena

 

Welcome to the forums and I, a non medical layperson, think you would benefit from a referral to a scleroderma expert, this list of experts is provided by the Scleroderma Society UK.

 

Scleroderma is a rare and complex disease and you need an expert eye cast over you and your symptoms to determine whether you just have localised scleroderma or not.

 

Have a read of our page Conditions associated with morphea as it states:

 

"About 25% of morphea patients will have at least one extra-cutaneous (non-skin) manifestation, but less than 4% of morphea patients will develop more than two non-skin manifestations...A 2003 large multinational study found that 25% of localized patients had at least one other manifestation, such as osteoarticular, neurological (epilepsy, headache, peripheral neuropathy), ocular, vascular, gastrointestinal (heartburn), respiratory, cardiac, or renal."

 

It is possible to have morphea and non skin related symptoms as well.

 

Have a look at our videos difficult diagnosis and diagnosis of scleroderma, diagnosing systemic scleroderma can be a long process. Blood tests alone should never be used to diagnose scleroderma or rule it out, they can be a red herring because it's possible to have positive blood work and never develop any symptoms of scleroderma. It's also possible to have scleroderma but negative blood work. I have both localised and systemic scleroderma but my blood work is negative. Have a read of my story, hopefully you'll find it helpful.

 

When fingers become tight, stretched and wax-like it's called sclerodactyly and this video shows what this looks like. This condition is associated with systemic scleroderma not localised.

 

Take some time to digest the information in the videos and then you can decide if you think you need referral to a scleroderma expert and if so you have the information to hand to back up your request. 

 

Take care and keep posting.

 


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#3 Joelf

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Posted 11 March 2013 - 02:45 PM

Hi Jeena,

 

Welcome to these forums!

 

I'm sorry to hear that you've developed some more symptoms, apart from Morphea. I also suffer with painful joints, so can sympathise with you. I've included a link to Hand and Joint Involvement in Scleroderma which I hope you'll find interesting and informative.

 

As Amanda has advised, it would be beneficial for you to, if possible, consult a Scleroderma specialist, as sadly many rheumatologists do not have the knowledge and expertise to deal with this complex disease.  

 

Please do update us when you have a further appointment and let us know the outcome.

 

Kind regards,


Jo Frowde
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#4 Amanda Thorpe

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Posted 11 March 2013 - 06:44 PM

Ladies,

 

I can now also sympathise with the joint pain as after managing to avoid it for 5 years it has become a new symptom in year six, an unwanted one I might add. When I wake early in the morning (babies have nothing on cats) I dread getting up, worst of all is my left shoulder, yikes! For me it gets better as I move but that first burst of movement on a morning...it's a thing of dread!

 

Take care.


Amanda Thorpe
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#5 Jeena

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Posted 15 March 2013 - 11:04 PM

Thanks for your replies

I have had a further appointment with my general practitioner who feels my fingers are curling due to tight tendons rather than tightening of the skin and wants me to see the rheumatologist again before considering any other referrals. I will let you know the outcome.

Best wishes
Jeena

#6 Jeena

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Posted 02 May 2013 - 01:05 AM

Morning All

Just thought I'd share the outcome of my recent appointment with my rheumatologist. Since I last posted my joint pain continued to increase and my mobility deteriorated due to stiffness in my knees and ankles. I was having major difficulties getting up and down stairs and following an Occupational Therapy assessment was provided with several aids to help around the house. My ability to attend to my self care needs also deteriorated and I have been needing more help from family with dressing ,drying hair, etc. This has been made worse by what I think is a joint contracture in my right arm as I am unable to turn this palm side up (sorry if this sounds confusing ) I can no longer reach behind my back with either arms and my wrists continue to be stiff and rigid and my fingers swollen and curled.

 

When I saw my rheumatologist on Monday I felt at a very low ebb and quite physically exhausted due to continued fatigue and disturbed sleep. I was so looking forward to getting nearer a diagnosis but left feeling bitterly disappointed.

 

As I mentioned in my first post, the rheumatologist initially felt my symptoms were due to degeneration in the cervical vertebrae and while the MRI scan confirmed osteoarthritis in my neck, I was seen by two physiotherapists who felt my symptoms did not account for this and a detailed report was sent to the rheumatologist and a suggestion of some form of connective tissue disorder.

 

At my recent appointment the rheumatologist gave me little opportunity to speak up and after a quick examination concluded he continues to feel the problems are from my cervical spine and is referring me to a neurosurgeon for nerve conduction tests. I queried whether scleroderma was an option but he stated no as there was nothing showing in my blood results.He did not look at my skin and I have since developed very shiny skin on my hands arms and legs and possibly mild Raynauds (fingers are reacting to even minor changes in temp but going purple not blue).

 

Anyway to conclude what was going to be a quick update, I have been prescribed prednisolone 15mg daily and lyrica for pain. This is my third day on the steroids (not taken any lyrica) and there is definitely major improvement in pain relief and loosening of my joints even in my fingers.

 

I guess my main concern is that this medication will mask my symptoms and prevent a diagnosis if it is not my neck. I am considering paying privately for a consultation with one of the experts from the list and any thoughts or advice would be much appreciated.

Really sorry for the long post!

 

Best Wishes,

 

Jeena



#7 Shelley Ensz

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Posted 02 May 2013 - 10:56 AM

Hi Jeena,

 

I am sorry you are having so many health issues and that you feel disappointed in your rheumatology visit. It is a bit crazy-making for us in the forums when doctors rely so heavily on blood tests for scleroderma, either to rule it out or to diagnose it, because scleroderma is difficult to nail down with blood work so it is supposed to be diagnosed based upon clinical symptoms.  Such as tight skin, for example.

 

It's worrisome to me that he didn't bother to examine your skin, in light of your concern about scleroderma. Based on what you have reported, and bearing in mind that I have no medical training at all and am still waiting to receive my Internet Medical Degree in the mail (I paid $5 for it), I would recommend that you seek out the opinion of a verified scleroderma expert, such as the ones at Royal Free.

 

A matter to consider is that the use of steroids can cause sudden kidney failure in scleroderma patients. See our page on Prednisone (Steroid) Warnings for Scleroderma. It is also extremely important to never decrease or discontinue steroids without the express permission and directions from a doctor, because improper discontinuation can cause all sorts of serious health problems.

 

I mention that to point out the serious issue of your proper diagnosis at this time. If your symptoms are indeed due to some sort of cervical spine issues, well then that would be a different story. But, I have not yet heard of cervical spine issues causing shiny, hardened skin and contracted fingers. Perhaps that's because I'm hard of hearing, or maybe because I don't have any medical training, or possibly because they are simply not related, and I would welcome anyone with a different understanding to please post here now and correct me, as we care far more about medical accuracy than any sort of hurt feelings around here.

 

Do you have a primary care doctor you could turn to right now?  Perhaps you could even just print this thread out as it would explain things fairly well. I think at the very least you would deserve a prompt evaluation at the scleroderma center, which would always be appropriate when someone is encountering the rapid development of tight skin, such as you are reporting.

 

I say that because usually scleroderma takes a more lingering course, of perhaps hand problems or intermittent swelling for a few years before something becomes more visible or noted by the doctor.

 

When it progresses rapidly, over the course of weeks or a few months, it really needs prompt attention and thoughtful treatment by experts.  Most rheumatologists usually only see one or two cases in their entire career so they are generally unequipped to evaluate or diagnose scleroderma, unless you would have the unusual experience of your symptoms matching up with your blood work, in which case it would be a shoe-in.

 

Actual scleroderma experts are very few and far between on this planet, but there is an outstanding, world-class center at Royal Free. I think you could rely on them to provide a careful evaluation and they could sort out your health issues and get a care plan set up for you.

 

Please keep us informed of how things are going.

 

 

:emoticons-group-hug:


Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

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

#8 Amanda Thorpe

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Posted 02 May 2013 - 01:46 PM

Hello Jeena

 

Not able to turn your hand palm up? That's because the skin on your forearm/hand is tightening preventing the rotation. Well that's my guess anyway because that is exactly what happened to me. I have no medical training of course but I would be guessing you have iffuse systemic scleroderma and you have got to get a referral to a scleroderma expert.

 

Blood results are irrelevant, my blood work is negative (negative ANA & SCL-70 and always has been) but I have diffuse systemic scleroderma, a scleroderma expert would know this, a run of the mill rheumatologist would not.

 

Go to see your GP, armed with information from this site, and demand referral to a scleroderma expert. I recommend the Royal Free in London as it houses scleroderma experts such as Prof Denton and he knows the relevance of blood work and can spot scleroderma at 50 paces!

 

Reading your recent post made me both angry and sad. Angry because you are suffering at the hands of a rheumatologist and sad because it reminded me of that time in my scleroderma journey. One day you could reach behind your back then suddenly not, one day you could extend your arm fully, next day not, one day you could turn your hands palm up, next day...

 

I implore you to get a referral to a scleroderma expert, I suggest the Royal Free, as my guess is your mobility will just get worse as will the pain and skin involvement.

 

Take care.


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#9 judyt

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Posted 02 May 2013 - 09:38 PM

Hi Jeena,

 

I too would like to welcome you here to the Forums and trust that you are able to explore all the different threads which might help you feel more confident in sticking up for yourself and demanding another referral.   I live way down there in New Zealand on the other side of the world where we have no access to Scleroderma experts so I would encourage you to take Amanda's advice and do your utmost to get to the Royal Free as soon as.  

 

I have contact here with two young women who have recently experienced fast and devasting skin tightening and just wish that we had your opportunity of help from somebody who really knows.

 

We all know how devastating it is to realise what is happening to us and the best thing you can do is push for more help.

 

Best wishes

Judyt



#10 Jeena

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Posted 11 May 2013 - 10:10 PM

Thanks for your replies and sorry for my delayed response

It's so reassuring to have this forum to express your worries and be safe in the knowledge of gaining sound advice from people who have personal experiences .

 

Amanda it was actually your 'story' that led me to wonder if this was systemic scleroderma. I remember thinking how alike my symptoms were to yours in the beginning,especially about struggling to make it through the day at work. I have now been on sick leave over three months and I also relate to walking like Frankenstein's bride lol !

 

I viewed the video on sclerodactyly and my hands are so similar, the skin on my hands is fairly tight and very very shiny and is starting to spread slightly up my forearm . On the palm side of my hands the tendons feel very tight and the skin feels very thick and on the inner parts of both wrists the skin is taut, shiny and feels 'stuck' to the bones underneath. This is how the skin is feeling on my legs too and visibly seems to be extending from the ankles upwards and I also seem to have lost fat or muscle especially my lower legs.
The muscles, joints and tendon involvement sounds like so many other people's experiences but I think it is the skin symptoms that I'm not sure about and don't feel I want to waste anyone's time if it is not scleroderma. I also have not been diagnosed with Raynaud's and am only experiencing mild changes to cold temperatures. However there is nothing I can think of other than this which was making me feel so ill and limiting my mobility in so many ways. I certainly do not feel the problems stem from my cervical spine and have no pain from there.

 

Thank you Shelley for the advice regarding the steroids I have since discussed further with my GP to discuss stopping them ,however the rheumatologist has discussed a possible diagnosis of eosinophiliac fasciitis (with my general practitioner, not me ) which would be treated with prednisolone so he would like me to continue until other tests have been completed. I have read the links on the site to see if my symptoms would match this diagnosis but basically feel more confused than ever. The steroids have actually made a great improvement to my mobility and eased most of the pain. I am still left with the contractures in my hands and arms and still a lot of stiffness in my knees and ankles.

 

I am going to take your advice and still request a referral to a scleroderma expert and will let you know how 'my story ends '


Thank you and best wishes
Jeena



#11 Joelf

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Posted 11 May 2013 - 11:03 PM

Hi Jeena,

 

Thanks so much for letting us have an update.

 

I think one of the most frustrating things with Scleroderma is the difficulty in reaching a firm diagnosis. I was very fortunate in that I was referred to The Royal Brompton, where they are very familiar with the manifestations of lung fibrosis and was therefore diagnosed very quickly, but I know that this tends to be the exception; I believe the average time taken to reach a diagnosis is 6 years.

 

I've included a link to our medical page on  eosinophiliac fasciitis to give you some more information about this.

 

I'm pleased that the steroids have eased the discomfort  and increased your mobility; I also have to take a low dose (and I'm trying to get it even lower as we speak! ;)) and quite frankly I wouldn't be able to function without it, although I accept that it's not a drug that I would want to be taking, given the choice.

 

Do please let us know how you get on with your referral and appointment with a Scleroderma expert.

 

Kind regards,


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#12 Amanda Thorpe

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Posted 14 May 2013 - 03:46 PM

Hello Jeena

 

Per Jo's link the telling difference between scleroderma and eosinophilic fasciitis is:

 

Symptoms eosinophilic fasciitis:

The usual initial symptoms are pain, swelling, and inflammation of the skin, particularly over the inside of the arms and the front of the legs. The skin of the face, chest, and abdomen may occasionally be affected also. In contrast to systemic sclerosis, the skin of the feet and hands is not affected and Raynaud's syndrome does not occur.

 

If your hands are affected and your feet this would suggest scleroderma. Not everyone with scleroderma has Raynaud's, most but not all, I have probably the mildest form ever and experience no colour changes. In fact I only know I have Raynaud's because I was diagnosed with it via capillaroscopy and thermography.

 

Have you had a biopsy because this would decide the diagnosis? May I endorse your idea of paying privately for a referral to Prof Denton? If he then diagnoses you he will see you in the NHS clinic thereafter and if you don't have scleroderma you will at least know.

 

Take care.


Amanda Thorpe
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