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Scleroderma is caused by genetic and environmental factors. [ 4 ] [ 5 ] [ 16 ] [ 17 ] 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 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.
Mixed connective tissue disease (MCTD) is a systemic autoimmune disease that shares characteristics with at least two other systemic autoimmune diseases, including systemic sclerosis (Ssc), systemic lupus erythematosus (SLE), polymyositis / dermatomyositis (PM/DM), and rheumatoid arthritis. [2] The idea behind the "mixed" disease is that this ...
The exact causes of autoimmune diseases remain unclear and are likely multifactorial, involving both genetic and environmental influences. [7] While some diseases like lupus exhibit familial aggregation, suggesting a genetic predisposition , other cases have been associated with infectious triggers or exposure to environmental factors, implying ...
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.
Being female is the single greatest risk factor for developing autoimmune disease than any other genetic or environmental risk factor yet discovered. [23] Autoimmune conditions overrepresented in women include: lupus, primary biliary cholangitis, Graves' disease, Hashimoto's thyroiditis, and multiple sclerosis, among many others.
The interaction between the genetic factors and environmental stimulus is what results in the disease phenotype. [19] There may be significant public health benefits in using gene by environment interactions to prevent or cure disease. [20] An individual's response to a drug can result from various gene by environment interactions. [19]
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. Although it is a rare disease, it is one of the more common overlap syndromes seen in ...