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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: No evidence of association with autoimmunity. Research not reproducible ...
As of 2012, the five-year survival rate for systemic scleroderma was about 85%, whereas the 10-year survival rate was just under 70%. [44] This varies according to the subtype; while localized scleroderma rarely results in death, the systemic form can, and the diffuse systemic form carries a worse prognosis than the limited form.
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. There are two major subgroups of systemic sclerosis based on the extent of skin involvement: limited and diffuse.
Systemic sclerosis (progressive systemic scleroderma), a rare, chronic disease which affects the skin, and in some cases also blood vessels and internal organs. Tuberous sclerosis, a rare genetic disease which affects multiple systems.
People with scleromyositis have symptoms of both systemic scleroderma and either polymyositis or dermatomyositis, and is therefore considered an overlap syndrome. Although it is a rare disease, it is one of the more common overlap syndromes seen in scleroderma patients, together with MCTD and Antisynthetase syndrome.
Anti-centromere antibodies are found in approximately 60% of patients with limited systemic scleroderma and in 15% of those with the diffuse form of scleroderma. The specificity of this test is >98%. Thus, a positive anti-centromere antibody finding is strongly suggestive of limited systemic scleroderma.
Some patients with MCTD may have scleroderma-like symptoms such as squared telangiectasia on the hands and face, periungual telangiectasia, sclerodactyly, and calcinosis cutis. [ 18 ] [ 10 ] Like systemic sclerosis , aberrant nailfold capillaroscopy with enormous capillaries, atypical forms, and low capillary density is a common hallmark of ...
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