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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.
Scleroderma is caused by genetic and environmental factors. [ 4 ] [ 5 ] [ 17 ] [ 18 ] Mutations in HLA genes seem to play a crucial role in the pathogenesis of some cases; likewise silica , aromatic and chlorinated solvents, ketones , trichloroethylene , welding fumes, and white spirits exposure seems to contribute to the condition in a small ...
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.
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 ...
Independent studies repeatedly suggested that microchimeric cells of fetal origin may be involved in the pathogenesis of systemic sclerosis. [ 3 ] [ 33 ] Moreover, microchimeric cells of maternal origin may be involved in the pathogenesis of a group of autoimmune diseases found in children, i.e. juvenile idiopathic inflammatory myopathies (one ...
Given the systemic nature of many autoimmune disorders, a multidisciplinary approach may be necessary for their diagnosis and management. This can involve rheumatologists, endocrinologists, gastroenterologists, neurologists, dermatologists, and other specialists, depending on the organs or systems affected by the disease.
Systemic autoimmune diseases include coeliac disease, lupus erythematosus, Sjögren syndrome, scleroderma, rheumatoid arthritis, cryoglobulinemic vasculitis, and dermatomyositis. These conditions tend to be associated with autoantibodies to antigens which are not tissue specific.
Scleromyositis, is an autoimmune disease (a disease in which the immune system attacks the body). People with scleromyositis have symptoms of both systemic scleroderma and either polymyositis or dermatomyositis, and is therefore considered an overlap syndrome.