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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 ...
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.
Scleroderma results from the overproduction of collagen in affected tissues, one study claims that there is an increased density of Topoisomerase I sites in the collagen genes, and that the antibodies may be altering transcription at these loci. [7]
Connective tissue diseases can be classified into two groups: (1) a group of relatively rare genetic disorders affecting the primary structure of connective tissue; and (2) a number of acquired conditions where the connective tissues are the site of multiple, more or less distinct immune and inflammatory reactions.
ANAs are found in many disorders, as well as some healthy individuals. These disorders include: systemic lupus erythematosus (SLE), rheumatoid arthritis, Sjögren syndrome, scleroderma, polymyositis, dermatomyositis, primary biliary cirrhosis, drug induced lupus, autoimmune hepatitis, multiple sclerosis, discoid lupus, thyroid disease, antiphospholipid syndrome, juvenile idiopathic arthritis ...