Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011633 (dermatomyositis)
 4,181 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 53-year-old female suffered from joint pain and muscle weakness in all extremities in 1991. Laboratory data showed increased creatine phosphokinase (CK) and aldolase. Liver dysfunction and weakness of proximal muscles also appeared and polymyositis (PM) was suspected. Two years later, she was diagnosed with dermatomyositis (DM) through skin and muscle biopsy. Because elevation of biliary enzymes and transaminases were continued, liver biopsy was performed in 1997. Histopathological findings of her liver were compatible with primary biliary cirrhosis (PBC). Similar conditions were noticed in her identical twin as well. DM associated with PBC is unusual and cases of monozygotic twins with both conditions are very rare. The difference between PBC and autoimmune cholangitis (AIC) which has recently reported and the genetic influence on the pathogenesis of DM and AIC are also discussed.
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PMID:[Autoimmune cholangitis (AIC) associated with myositis in monozygotic twins]. 1121 Jul 74

Cardiac troponin T (cTnT), cardiac troponin I (cTnI), myosin heavy chains (MHC), myoglobin, creatine kinase (CK), and creatine kinase isoenzyme MB (CKMB), were measured in blood samples from 39 polymyositis (PM) or dermatomyositis (DM) patients without clinical evidence for cardiac involvement to evaluate their clinical usefulness in this patient population. MHC, myoglobin, and CKMB were frequently elevated and correlated with each other and with disease severity. Undetectable cTnI in all but one patient indicated that MHC was released from skeletal muscle, thereby providing the first laboratory evidence of frequent slow-twitch muscle fibre-necrosis in patients with PM or DM. CKMB was elevated in 51%, cTnT in 41%, and cTnI in only 2.5% of patients. cTnI did not correlate with other markers or with disease severity scores. The close correlations found between cTnT and skeletal muscle damage markers and the relationship between cTnT with disease severity without clinical evidence for myocardial damage suggest a release of cTnT from skeletal muscle. The relationship of cTnT with disease severity indicates a possible role of the marker for risk stratification. However, the prognostic values of cardiac troponins and other muscle damage markers in PM/DM patients remain to be compared in prospective outcome trials.
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PMID:Cardiac troponin and beta-type myosin heavy chain concentrations in patients with polymyositis or dermatomyositis. 1128 91

The group of idiopathic inflammatory myopathies encompasses polymyositis, dermatomyositis and inclusion body myositis. These diseases share the following features: progressive muscle weakness, an increase in serum creatine kinase activity and the presence of mononuclear cell infiltrates in the muscle biopsy. Polymyositis, dermatomyositis and inclusion body myositis are differentiated on the basis of the distribution of muscle weakness, and specific histopathological features. Many specialties may see these patients as the clinical presentation can vary widely and may be atypical, requiring further diagnostic procedures. A 40-year-old man with a heliotrope rash and periorbital oedema, but no muscle involvement, was diagnosed with dermatomyositis sine myositis. He was successfully treated with corticosteroids but died later of cardiac failure. A 72-year-old man with a pulmonary malignancy subsequently developed the clinical features of dermatomyositis. Steroid therapy diminished the complaints but he died of pulmonary embolism. A 54-year-old woman with the clinical features of inclusion body myositis did not have rimmed vacuoles in her muscle biopsy specimen and was initially erroneously diagnosed with polymyositis, for which she was treated with corticosteroids, but without beneficial effect.
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PMID:[Three patients with divergent presentations of idiopathic inflammatory myopathy]. 1203 18

The clinical correlation between serum muscle enzymes, muscle pathology and muscle weakness was studied in 100 Thai patients (22 males and 78 females) with polymyositis (PM) and dermatomyositis (DM). Their mean +/- SD age and duration of disease were 45.0 +/- 13.9 years and 6.3 + 13.4 months, respectively. There was idiopathic PM in 37 cases, idiopathic DM in 13, PM/DM associated with malignancy in 5 and PM associated with connective tissue disease in 45. Serum muscle enzymes including creatine phosphokinase, lactate dehydrogenase and aspartate aminotransferase were elevated in 87 per cent, 92 per cent, and 82 per cent of cases, respectively. Abnormal electromyographic findings that were compatible with inflammatory myopathy were found in 76 per cent of cases. Seventy-seven per cent had an abnormal muscle biopsy that was consistent with polymyositis. There was a significant correlation between serum muscle enzymes and muscle pathology (p < 0.01). The degree of muscle weakness correlated better with the degree of muscle destruction (p = 0.01) than the degree of muscle inflammation (p = 0.03). The erythrocyte sedimentation rate showed no correlation with serum muscle enzymes, muscle pathology or muscle weakness.
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PMID:Serum muscle enzymes, muscle pathology and clinical muscle weakness: correlation in Thai patients with polymyositis/dermatomyositis. 1207 17

A 44-year-old male was initially seen by dermatologists, who noted an erythematous rash on sun-exposed areas, the back, shoulders, and upper arms. There was associated muscle weakness and significant weight loss. Investigation revealed mildly raised aspartate and alanine transaminases but normal creatine kinase. Inflammatory indices and antinuclear antibodies (ANAs) were normal. Biopsy of the rash was reported as consistent with either dermatomyositis (DM) or acute lupus erythematosus. A diagnosis of DM was made, and prednisolone was given with improvement of the rash but deteriorating myopathy. The patient was referred to the rheumatology department, and further history revealed multiple vertebral fractures after falling from standing height; these had occurred six months prior to starting steroids. Besides smoking he had no other risk factors for osteoporosis. Examination showed normal muscle strength, no muscle tenderness, and no joint abnormality. Repeat muscle enzymes were normal, and ANAs were now 1 : 100, but dsDNA antibodies and extractable nuclear antigens were normal. Investigations for osteoporosis revealed a hypergonadotrophic hypogonadism picture. Further examination indicated scanty pubic and auxiliary hair, small testicles, and mild gynecomastia. He is married, though has no children of his own. The hormonal profile raised the possibility of Klinefelter's syndrome, which was subsequently confirmed with karyotyping of 47 XXY. Hypogonadism has been established as a cause of osteoporosis in males, and in this case would explain the occurrence of fractures in the absence of other major risk factors. Systemic lupus erythematosus has been recognized in association with Klinefelter's syndrome; in view of the normal muscle enzymes, his rash is most likely due to acute discoid lupus with androgen deficiency causing muscle weakness.
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PMID:Osteoporosis with underlying connective tissue disease: an unusual case. 1211 6

Association with Epstein-Barr virus (EBV) infection has been noted in various types of cutaneous lymphoproliferative disorders. We report a 57-year-old Japanese woman with T-cell lymphoma mimicking dermatomyositis that was associated with chronic active EBV infection. She presented with low-grade fever, bilateral erythematous swellings on the eyelids, and necrotic papules on the face. Serum creatine kinase levels were elevated and a diffuse reticular shadow was detected in both lung fields. The infiltrate of atypical lymphocytes found in skin and muscle, which contained EBV-encoded small nuclear RNA-1 and EBV, was also detected in the CD4+ peripheral blood cells. Treatment with prednisolone resolved her lesions with no relapse for 3 years, after which there was a recurrence in her left lung. Combination chemotherapy was not effective against the lung lesion and she died with multiple organ failure 2 months after the recurrence.
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PMID:Epstein-Barr virus-associated T-cell lymphoma: a case of eyelid swelling and intramuscular infiltration mimicking dermatomyositis. 1514 29

Dermatomyositis (DM) and polymyositis (PM) are idiopathic inflammatory myopathies characterized by proximal greater than distal muscle weakness, elevated serum creatine kinase levels, electrophysiologic abnormalities, and inflammation on muscle biopsy. Clinically and electrophysiologically, DM and PM appear very similar, and muscle biopsy is the gold standard for diagnosis. Much of the PM literature based the diagnosis on Bohan and Peter's criteria, which is now obsolete given the advances of immunopathology. As diagnostic criteria for the inflammatory myopathies have been refined, it has become apparent that PM is much less common than previously thought, and, in fact, is probably quite rare. More recent literature, using strict histopathologic criteria for diagnosis of PM, has brought into question previously reported associations. Because of this, the clinical entity of PM is poorly defined. The exact incidence of each is unknown because previous epidemiologic studies often grouped them together, but overall the annual incidence of the inflammatory myopathies is approximately one in 100,000. DM and PM respond to immunomodulating therapies. High-dose oral prednisone is generally accepted first-line therapy. In patients who do not respond adequately to prednisone alone, or in whom prednisone cannot be weaned, methotrexate or azathioprine can be added. In the authors' experience, methotrexate works faster and is more effective than azathioprine. However, because of the increased risk of interstitial lung disease with methotrexate, the authors avoid this in patients with anti-Jo-1 antibodies and, obviously, in patients who already have pulmonary disease. If patients do not respond adequately to the combination of prednisone and methotrexate or azathioprine, a trial of intravenous immunoglobulin is administered.
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PMID:Dermatomyositis and Polymyositis. 1289 97

Members of the synaptotagmin family have been proposed to function as Ca2+ sensors in membrane fusion. Syt VII is a ubiquitously expressed synaptotagmin previously implicated in plasma membrane repair and Trypanosoma cruzi invasion, events which are mediated by the Ca2+-regulated exocytosis of lysosomes. Here, we show that embryonic fibroblasts from Syt VII-deficient mice are less susceptible to trypanosome invasion, and defective in lysosomal exocytosis and resealing after wounding. Examination of mutant mouse tissues revealed extensive fibrosis in the skin and skeletal muscle. Inflammatory myopathy, with muscle fiber invasion by leukocytes and endomysial collagen deposition, was associated with elevated creatine kinase release and progressive muscle weakness. Interestingly, similar to what is observed in human polymyositis/dermatomyositis, the mice developed a strong antinuclear antibody response, characteristic of autoimmune disorders. Thus, defective plasma membrane repair in tissues under mechanical stress may favor the development of inflammatory autoimmune disease.
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PMID:Impaired membrane resealing and autoimmune myositis in synaptotagmin VII-deficient mice. 1292 4

We present two cases of interstitial pneumonia with anti-Jo-1 antibodies in the absence of myositis. The first patient was a 38-year-old woman and the second, a 59-year-old woman. Both patients were admitted to our hospital complaining of dry cough and dyspnea on effort. The diagnosis of interstitial pneumonia was made from chest radiography, computed tomography and surgical lung biopsy. Anti-Jo-1 antibodies, which were highly specific for polymyositis and dermatomyositis (PM/DM), were detected in both patients. However, the serum creatine kinase concentrations and electromyographic findings in both patients were normal, and no clinical signs (including muscle weakness, rash and arthralgia) were found. In the first patient, oral prednisolone (PSL) treatment (20 mg day) improved the interstitial pneumonia, but PSL has now been tapered to 17.5 mg day. In the second patient, oral PSL treatment (40 mg day) improved interstitial pneumonia, and the dose was tapered to 5 mg day. The second patient was followed for more than 10 years after treatment, but she has never shown any signs of clinical myositis. Further investigation will be required, because no pathophysiological relation between anti-Jo-1 antibodies and interstitial pneumonia with PM DM has yet been established.
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PMID:[Two cases of interstitial pneumonia with anti-Jo-1 antibodies in the absence of myositis]. 1458 96

THREE GROUPS OF PRIMARY INFLAMMATORY MUSCLE DISEASES: The primary inflammatory muscle diseases comprise three main subsets: polymyositis (PM), dermatomyositis (DM) and inclusion body myositis (IBM). PM and DM are characterized by a proximal weakness that develops along weeks to months and by elevated creatine phosphokinase levels. Cutaneous involvement including both erythema and edema and infantile or adult onset are DM specific. PM and IBM only concern adults. Several PM/DM manifestations must be searched for because of their severity: swallowing disorders, various mechanisms of respiratory dysfunction (swallowing pneumopathies, interstitial lung disease, respiratory muscle deficiency) and cardiac involvement. DIAGNOSTIC ELEMENTS FOR PM AND DM: Two investigations, beside biopsy, are particularly useful: muscle MRI imaging showing inflammatory pattern and specific detection of antisynthetase autoantibodies (PM/DM with interstitial lung disease) and anti-Mi-1 and 2 in DM. PHYSIOPATHOLOGICAL DATA: PM and DM differ in their histological and physiopathological characteristics: perivascular B and CD4 lymphocyte infiltrates and complement deposits at the origin of humoral induced vascular disease in DM and perimysial CD8 lymphocytes inducing a cellular mediated cytotoxic injury in PM. Class I HLA antigen expression on the muscle fibers and production of cytokines play a crucial role in the pathogenesis of these two diseases. PM and DM may be associated with cancers, connective-tissue disease (overlap syndrome). Some PM are secondary to HIV, HTLV1 virus and toxoplasmosis infection. CHARACTERISTICS OF INCLUSION BODY MYOSITIS: IBM, the most frequent acquired myopathy after 50 years of age, is characterized by particular features: not only clinical (late onset, selective weakness, early distal involvement, slow course, unresponsiveness to corticosteroid and immunosuppressant agents); but also histological (rimmed vacuoles, filamentous inclusions) and pathogenic (cytotoxic and degenerative inflammatory process, similar to Alzheimer's disease, with beta-amyloid protein accumulation).
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PMID:[Polymyositis, dermatomyositis and inclusion body myositis, nosological aspects]. 1463 Dec 70


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