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Some experts consider MCTD to be the same as undifferentiated connective tissue disease, [7] but other experts specifically reject this idea [8] because undifferentiated connective tissue disease is not necessarily associated with serum antibodies directed against the U1-RNP. Furthermore, MCTD is associated with a more clearly defined set of ...
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 ...
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)
Connective tissue disease, also known as connective tissue disorder, or collagen vascular diseases, refers to any disorder that affects the connective tissue. [1] The body's structures are held together by connective tissues, consisting of two distinct proteins : elastin and collagen .
There are many people who have features of connective tissue disease, such as blood test results and external characteristics, but do not fulfill the diagnostic criteria established for any one disease. These people are considered to have undifferentiated connective tissue disease (UCTD). [6] [3]
Other rheumatological disorders that can cause the features typical for RS3PE include late onset (seronegative) rheumatoid arthritis, acute sarcoidosis, ankylosing spondylitis and other spondyloarthropathies such as psoriatic arthropathy, mixed connective tissue disease, chondrocalcinosis and arthropathy due to amyloidosis. [6] [9]
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.
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]
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