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What causes connective tissue disorder?

Jan 2014
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Practicing since : 2002
Answered : 1628 Questions
lifelong blotchy skin on my arms and hands. was told I have a connective tissue disorder but no actual diagnosis of what it is. It used to just be worse blotchiness and pain inside my arms and hands/sometimes numbness in my hands and feet while I was having my periods but now it's gotten to where this pain is obvious in my hands and sometimes my feet almost daily. When my hands hurt more and there's more blotchiness, I tend to be losing weight rapidly for no reason despite no change in diet (or even while eating more food). Headaches occur more frequently when the pain and blotchiness are worse. I can't find examples of the blotchiness but it looks like lattice pattern, and the doctor had explained it's blood vessels dilating and constricting at the same time. If I rub my arms, the color evens out to my skin tone but goes back to blotchy in a few seconds. My weight is just not stable. I never really get overweight, just a 30 pound difference at this point. 103 pounds to 134 pounds. I just started losing weight again for no reason. I would love to know what's causing this. BTW: all autoimmune labwork has come back negative but I do know there's such thing as sero-negative autoimmune diseases. Also, nobody else in my family has admitted to having this sort of appearance on their skin. My mom does have arthritis, but I do not know what kind. My pain mainly feels like a dull ache like I'm not getting enough blood flow? also had one recent bloodwork ~3 months ago, showed hypothyroidism (mildly) but the followup ~3 weeks ago showed normal, and now my weight has gone down 8 pounds in the past week or two with no reason. I don't even work out for that to happen.
Posted Wed, 26 Feb 2014 in Skin Hair and Nails
Answered by Dr. Kakkar S. 58 minutes later
Brief Answer: Livedo Reticularis, Need more information Detailed Answer: Hi. Thanks for posting your concern at XXXXXXX I would keep a possibility of Livedo reticularis. I would like to gather some more information from you in order to be able to help you better. Apart from having weight loss and headaches.. --Do you have any joint pains? --Any history of oral ulceration? --Any history of proximal muscle weakness like difficulty in getting up from sitting position?Difficulty in combing/raising arms above shoulders? --Any history of facial rash?Photosensitivity? --Any history of fingers turning white, blue or red in cold weather? --Any history of seizures?Your medical history mentions possible seizure disorder.. --Can you please let me know which all tests were done in the autoimmune profile? regards
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Follow-up: What causes connective tissue disorder? 6 minutes later
I have joint pain sometimes. it seems to come and go. I had a period of time where I had blood blisters in my mouth very frequently, but they've seemed to be a lot less frequent (maybe once every one to three months I'll get one or two) My hair is long so my arms do tend to get tired, but I think they get tired a lot faster than they should. As far as getting up, sometimes when I get up, I've fallen over taking my first step away from where I was sitting, but it happens so rarely, it is not remarkable. My cheeks turn red from sunlight so I tend to avoid the sun. It doesn't quite look like a lupus style rash. I do break out along my neck and jawline and it can be scaly during the healing process (not so much like scabs as like scaly, where it's not like a scab that can be picked off). My fingers turn somewhat whiter in the cold but not terrible (the tips of my fingers maintain color generally). They do hurt more after being in the cold, but this isn't much of a difference. I have had what I thought were some mild seizures. I tend to be aware during them, but this week had a nystagmus incident that the ER said wasn't worrisome, they claimed it wasn't epileptic but sent me home with a contradicting paper on epilepsy and what to watch for--but the ER did not run any EEG during my visit (I disagreed with this). The normal incidents I have I used to have as a kid but most recently had one a week I'm falling asleep or if I wake up in the middle of the night or during a nap, I'll be feels like something whispered in my ear to cause it, like obnoxious tickles and shivers sent down the back causing me to contort, but with no actual external cause. I've been tested for lupus, some general autoimmuine tests, and tested for hashimotos. Everything has come back negative for the autoimmune factors. Gosh, I just realized and wanted to point out. I only remember going to the ER, but my parents told me when I was about 3 years old, after I started walking, I suddenly stopped walking for days on end complaining of extreme leg pain. This was so bad to the point of screaming. I believe both knees and hips were involved.
Answered by Dr. Kakkar S. 12 hours later
Brief Answer: Possibility of MCTD/ APLA/ Sneddens syndrome Detailed Answer: Hi. Thanks for the additional information. I would keep a possibility of either Mixed connective tissue disease(MCTD)/ Antiphospholipid antibody syndrome(APLA)/ Sneddens syndrome. Considering the symptoms you describe like Photosensitivity, Oral ulceration, Joint pains, Muscle weakness, Anorexia,Weight loss, Raynauds phenonmena(white or blue fingers on exposure to cold), Numbness in the hands along with the finding of Livedo reticularis, one would definitely be prompted to test for a possibility of connective tissue disorder(CTD). The findings don't point to any one particular CTD. It could be a mixed connective tissue disorder which is a syndrome with overlapping features of different CTDs like systemic sclerosis, systemic lupus erythematosus and dermatomyositis If i was your treating doctor i would have asked you to get a whole panel of tests like: --ANA, --Anti-dsDNA antibodies, --Anti-Sm antibodies, --Anti-Ro(SS-A) antibodies, --Anti-U1 RNP antibodies, --Antiphospholipid antibody, --RA factor. In all cases, photoprotection is advised. Therapy should be individualized to address the specific organ involved and the severity of underlying disease activity. It requires a multidisciplinary approach as multiple systems are involved in CTDs. Corticosteroids, antimalarials, methotrexate, cytotoxics, and vasodilators have been used alone or in combination under the guidance of dermatologists, internal medicine specialists and rheumatologists. Regards
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