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The idea behind the "mixed" disease is that this specific autoantibody is also present in other autoimmune diseases such as systemic lupus erythematosus, polymyositis, scleroderma, etc. MCTD was characterized as an individual disease in 1972 by Sharp et al., [3] [4] and the term was introduced by Leroy [5] in 1980.
CREST is not easily diagnosed as it closely mimics symptoms of other connective tissue and autoimmune diseases. Diagnoses are usually given when a patient presents two or more of the five major clinical symptoms. [5] Additionally, blood exams can be given to test for a positive ANAs and ACAs or skin biopsies can be given to help confirm a ...
Myxedema describes a specific form of cutaneous and dermal edema secondary to increased deposition of connective tissue components. The connective fibres are separated by an increased amount of protein and mucopolysaccharides. These can include glycosaminoglycans, such as hyaluronic acid, chondroitin sulfate and other mucopolysaccharides. [2]
Examples of overlap syndromes in rheumatology include mixed connective tissue disease and scleromyositis. Diagnosis depends on which diseases the patient shows symptoms and has positive antibodies for in their lab serology. In overlap syndrome, features of the following diseases are found (most common listed): [1] Systemic lupus erythematosus (SLE)
Dermatomyositis is a form of systemic connective tissue disorder, a class of diseases that often involves autoimmune dysfunction. [15] [23] It has also been classified as an idiopathic inflammatory myopathy, along with polymyositis, necrotizing autoimmune myositis, cancer-associated myositis, and sporadic inclusion body myositis. [24]
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.
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, [1] is an X-linked recessive mitochondrial and connective tissue disorder.It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene.
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)