Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of Erdheim-Chester disease, revealed by a polyuropolydipsic syndrome. During the patient's work-up, osteocondensing lesions were found; the biopsy of these lesions showed an infiltration by spumous cells of histiocytic lineage, CD68+, CD1a-, associated with a lymphoid infiltrate within an extensive fibrosis. Lung and retroperitoneal lesions were discovered. The surgical resection of the involved ureter was required. Histological examination of the resected specimen showed the same pattern of histiocytic infiltration. Our case report underlines the variety of lesions associated with Erdheim-Chester disease and the importance of a complete exploration.
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PMID:[Uncommon retroperitoneal and bone lesions: Erdheim-Chester disease]. 1867 71

Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis and is characterized by the diffuse histiocytic infiltration of multiple organs. Retroperitoneal ECD, especially with uterine involvement, is extremely rare. We report about a 73-year-old woman who presented with vaginal spotting for a month and experienced abdominal pain along with pus-like urine. Computed tomography revealed an irregular mass-like lesion in the uterus, possibly a uterine sarcoma, invading the ureter, rectosigmoid, and bladder. A tissue biopsy of the retroperitoneal mass revealed typical morphological and immunohistochemical features of ECD. However, clinical features, especially long bone involvement, did not coincide with ECD, and BRAF V600E gene mutation was not detected. We made a diagnosis of atypical retroperitoneal ECD mimicking uterine sarcoma with multiple organ involvement.
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PMID:Retroperitoneal Erdheim-Chester disease without skeletal bone involvement mimicking uterine sarcoma with multiple organ involvement. 3268 79