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In MCTD, major histocompatibility complex (MHC) and non-MHC genes have been linked to disease vulnerability. [10] HLA-DR4 in the MHC is linked to both anti-RNP antibody responses and MCTD. [ 52 ] [ 53 ] The HLA class II phenotype/genotype most closely connected with scleroderma , HLA-DR5 , and its subgroups, has been demonstrated to have a ...
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 scleroderma patients, together with MCTD and Antisynthetase syndrome.
An overlap syndrome is a medical condition which shares features of at least two more widely recognised disorders. Examples of overlap syndromes can be found in many medical specialties such as overlapping connective tissue disorders in rheumatology, and overlapping genetic disorders in cardiology.
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]
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.
Myocarditis-myositis-myasthenia gravis overlap syndrome (IM3OS) is a rare immune-related adverse event primarily associated with the use of immune checkpoint inhibitors (ICIs). These ICIs, which have been incorporated into the treatment of various malignancies , function by activating the immune system to detect and attack cancer cells .
CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc), is a multisystem connective tissue disorder. The acronym "CREST" refers to the five main features: calcinosis , Raynaud's phenomenon , esophageal dysmotility , sclerodactyly , and telangiectasia .
Lupus erythematosus–lichen planus overlap syndrome (lichen planus–lupus erythematosus overlap syndrome) Methotrexate-induced papular eruption; Mixed connective tissue disease (Sharp's syndrome, undifferentiated connective tissue disease) Morphea profunda; Morphea–lichen sclerosus et atrophicus overlap