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Scleroderma is a group of autoimmune diseases that may result in changes to the skin, blood vessels, muscles, and internal organs. [ 2 ] [ 6 ] [ 8 ] The disease can be either localized to the skin or involve other organs, as well. [ 2 ]
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.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Hutchinson-Gilford progeroid syndrome (HGPS) is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at an early age. [8] Its occurrence is usually the result of a sporadic germline mutation ; although HGPS is genetically dominant, people rarely live long enough to have children ...
An immune system disorder but not an autoimmune disease. IPEX syndrome: 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
Multiple sclerosis, or focal sclerosis, [2] is a central nervous system disease which affects coordination. Osteosclerosis, a condition where the bone density is significantly increased, resulting in decreased lucency on radiographs. Otosclerosis, a disease of the ears. Primary lateral sclerosis, progressive muscle weakness in the voluntary ...
It occurs in people with autoimmune diseases such as scleroderma, which causes thickening and inflammation of the skin, and lupus, which causes inflammation throughout the body. Raynaud’s runs ...
Connective tissue diseases are caused by a complex array of autoimmune responses that target or affect collagen or ground substance. [35] [43] Acute cutaneous lupus erythematosus; Atrophoderma of Pasini and Pierini (dyschromic and atrophic variation of scleroderma, morphea plana atrophica, sclérodermie atrophique d'emblée)
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