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)

A 56-year-old healthy man noticed a stony-hard mass gradually grown in his neck for more than a 6-year period. Examinations revealed 2 additional calcified masses at the esophageal hiatus and retroperitoneum. The cut-surface of the operative specimens showed fibrous and mucinous appearance with many calcified islands. Microscopically, the lesion showed a gradual transform from the central immature area with fibroblasts and mucinous matrix, to the peripheral mature area with woven bone and osteoclasts (zoning phenomenon), which was compatible with the features of mature myositis ossificans. Myositis ossificans is an isolated, benign, nonneoplastic disease typically found in adolescence, after traumatic episode. Similar lesions have been found in the major musculature of patients with increased bleeding tendency. In the present case, idiopathic thrombocytopenic purpura was found to be associated and was suggested to be involved in initiating myositis ossificans. Still, it is extremely rare to observe lesions in these sites synchronously.
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PMID:Myositis ossificans associated with subclinical idiopathic thrombocytopenic purpura: report of a case. 1861 37

Evans syndrome (ES) is a rare but challenging condition, characterized by recurrent and refractory cytopenia episodes. Recent discoveries highlighted that an appropriate diagnostic workup is fundamental to identify an underlying immune dysregulation such as primary immunodeficiencies or a rheumatological disease. We hereby describe clinical features and laboratory results of 12 pediatric patients affected by ES referred to the Pediatric Onco-Hematology Unit of Bologna. Patients experienced a median of four acute episodes of cytopenia with 9 years as median age at the onset of symptoms. In 8/12 (67%) patients an underlying etiology, primary immunodeficiencies, or rheumatological disease was identified. In 4/12 children, other immune manifestations were associated (Thyroiditis, Celiac disease, Psoriasis, Vitiligo, Myositis, Membranoproliferative Glomerulonephritis). ES remained the primary diagnosis in four patients (33%). At a median follow-up time of 4 years, 5/12 (42%) patients revealed a chronic ITP, partially responsive to second line therapy. Immunoglobulin Replacement Therapy (IRT) was effective with a good hematological values control in three patients with a secondary ES (ALPS, CVID, and a patient with Rubinstein Taybi Syndrome and a progressive severe B cell deficiency with hypogammaglobulinemia). Our experience highlights that, in pediatric patients, ES is often only the first manifestation of an immunological or rheumatological disease, especially when cytopenias are persistent or resistant to therapy, with an early-onset or when are associated with lymphadenopathy.
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PMID:Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease. 3139 97