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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.
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.
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 ...
Individuals with known or currently undiagnosed rare genetic syndromes are evaluated by genetic and biochemical investigations. The Dermatology Branch investigates fundamental and clinical aspects of neoplastic and inflammatory skin disease as well as normal skin function, while also providing all dermatology patient care at the NIH Clinical ...
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.
DR5 is associated with persistent generalized lymphadenopathy [3] and Kaposi's sarcoma in AIDS, [4] juvenile rheumatoid arthritis, [5] [6] pernicious anemia, Hashimoto's thyroiditis, [7] [8] mycosis fungoides, [9] polyglandular deficiency syndrome, [10] systemic sclerosis, [11] [12] childhood epilepsy, [13] early-onset alopecia areata, [14] short-ragweed Ra6 allergy, [15] primary ...
HLA-DR52 is an HLA-DR serotype that recognizes gene products of HLA-DRB3 locus. Three allele groups can produce 35 isoforms. DRB3, DRB4, and DRB5 are minor DR beta-encoding loci, and they have been recognized as having distinct evolution, [1] having diverged from DRB1 around 4 million years ago.
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.
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