Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical and laboratory findings were correlated from 46 patients with IgG localization in epidermal nuclei in a speckled (particulate) pattern on direct immunofluorescence of normal skin. Cutaneous manifestations included lupus erythematosus (LE), swollen hands or sclerodactyly, alopecia, vasculitis, and dyspigmentation. Systemic manifestations included arthritis or arthralgia, Raynaud's phenomenon, serositis, vascular headaches, mild renal disease, myositis, and sicca syndrome. High titer (mean = 1:142, 800) serum antibody to extractable nuclear antigen (ENA) was found in 81%. Eighty-six percent had antibody to an RNase-sensitive antigenic component of ENA (ribonucleoprotein or RNP); 14% had antibody to an RNase-resistant ENA termed Sm. Deposition of IgG in a speckled pattern in epidermal nuclei is an immunopathologic marker for a subset of connective tissue disease characterized by antibody to ENA. Those with Sm specificity had systemic LE (SLE); Those with RNP specificity had Raynaud's phenomenon usually associated with overlapping features of SLE, scleroderma, and/or dermatomyositis.
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PMID:Speckled (particulate) epidermal nuclear IgG deposition in normal skin. Correlation of clinical features and laboratory findings in 46 patients with a subset of connective tissue disease characterized by antibody to extractable nuclear antigen. 34 15

A study was done that involved 46 patients with high-titer serum antibody to ribonucleoprotein (RNP). Common cutaneous manifestations included swollen hands or sclerodactyly (50 percent), cutaneous lupus erythematosus (48 percent), periungual telangiectasia (46 percent), alopecia (46 percent), dyspigmentation (28 percent), photosensitivity (28 percent) and vasculitis (22 percent). Frequent systemic characteristics included Raynaud phenomenon (93 percent), arthritis or arthralgia (91 percent), adenopathy (43 percent), vascular headaches (35 percent), serositis (35 percent), hoarseness (28 percent), myositis (26 percent), sicca syndrome (24 percent), renal disease (17 percent) and central nervous system disease (9 percent). Associated laboratory findings included antinuclear antibodies (100 percent), epidermal nuclear lgG deposition (91 percent), hypergammaglobulinemia (78 percent), esophageal dysmotility (61 percent), abnormal pulmonary function (59 percent), rheumatoid factor (57 percent), lupus erythematosus cells (37 percent), positive lupus band test (34 percent), hypocomplementemia (28 percent) and elevated anti-nDNA (21 percent). It appears that patients with high-titer anti-RNP (without appreciable amounts of "anti-Sm") have a high prevalence of Raynaud phenomenon and a low prevalence of progressive renal insufficiency and severe central nervous system disease.
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PMID:Mixed connective tissue disease. 738 33