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Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. [ 2 ] [ 6 ] [ 8 ] The disease can be either localized to the skin or involve other organs, as well. [ 2 ]
An immune system disorder but not an autoimmune disease. IPEX syndrome: A genetic mutation in FOXP3 that leads to autoimmune diseases, but not an autoimmune disorder itself. Ligneous conjunctivitis: No consistent evidence of association with autoimmunity. Majeed syndrome: No consistent evidence of association with autoimmunity. Narcolepsy
Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by excessive production and accumulation of collagen, called fibrosis, in the skin and internal organs and by injuries to small arteries.
In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. [1] Diagnosis is often based on the Ghent criteria, [9] family history and genetic testing (DNA analysis). [2] [4] [3] There is no known cure for MFS. [1] Many of those with the disorder have a normal life expectancy with proper ...
When there is proof of an autoimmune disease, but the disease does not correspond to any specific autoimmune disease (such as systemic lupus erythematosus (SLE), scleroderma, [2] mixed connective tissue disease, Sjögren syndrome, systemic sclerosis, polymyositis, dermatomyositis, or rheumatoid arthritis), it will be
The results of the study — the largest genetic study of the condition to date — could lead to more effective treatments, experts said. ... who co-directs John Hopkins Scleroderma Center.
People with scleroderma overlap syndrome have symptoms of both systemic scleroderma and/or polymyositis and dermatomyositis: Scleroderma: a group of rare diseases that involve the hardening and tightening of the skin and connective tissues. Polymyositis: a rare inflammatory disease that causes muscle weakness affecting both sides of your body.
Multiple sclerosis, or focal sclerosis, [2] is a central nervous system disease which affects coordination. Osteosclerosis, a condition where the bone density is significantly increased, resulting in decreased lucency on radiographs. Otosclerosis, a disease of the ears. Primary lateral sclerosis, progressive muscle weakness in the voluntary ...
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