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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.
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.
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)
The term is sometimes used interchangeably with mixed connective tissue disease (MCTD), as it is an overlap syndrome. However, some researchers believe that MCTD is a clinically distinct entity and is strongly associated with the presence of titer high in antibodies Ribonucleoproteins (RNP). [4]
Dermatomyositis: an inflammatory disease of skin and muscle marked especially by muscular weakness and skin rash. Scleroderma is a connective tissue disease that causes fibrosis and vascular abnormalities, but that also has an autoimmune component, and can include connective tissues complications.
Connective tissue diseases are caused by a complex array of autoimmune responses that target or affect collagen or ground substance. Subcategories This category has the following 4 subcategories, out of 4 total.
The subcutaneous tissue is a layer of fat between the dermis and underlying fascia. [14] This tissue may be further divided into two components, the actual fatty layer, or panniculus adiposus, and a deeper vestigial layer of muscle, the panniculus carnosus. [3] The main cellular component of this tissue is the adipocyte, or fat cell. [14]
Main antinuclear antibody patterns on immunofluorescence. [4] CREST syndrome typically displays the centromere pattern. 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]
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