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Erdheim‑Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review.
Exp Ther Med
April 2024
Department of Rheumatology and Autoimmunology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational Medicine, Shandong Medicine and Health Key Laboratory of Rheumatism, Jinan, Shandong 250000, P.R. China.
Erdheim-Chester disease (ECD) is a rare tumor of histiocytic origin, characterized by foamy or lipid-laden histiocytes mixed or surrounded by fibrosis that infiltrate multiple organs. Misdiagnosis is common due to the diversity of clinical presentations. The present study reported a case of ECD with the involvements of bone, cardiac, aorta and retroperitoneum.
View Article and Find Full Text PDFErdheim-Chester Disease With BRAF V600E Mutation and Central Diabetes Insipidus Successfully Treated With Glucocorticoid.
JCEM Case Rep
March 2023
Department of Diabetes, Endocrinology and Metabolism, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan.
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by xanthoma/xanthogranuloma infiltration in various organs and a broad spectrum of clinical presentations, including bone lesions, central diabetes insipidus and renal failure. BRAF V600E mutation is seen in almost half of the cases of ECD; the BRAF inhibitor vemurafenib is recommended treatment in the United States and the European Union. However, the indication for vemurafenib in Japan is limited to unresectable malignant melanoma with BRAF mutation.
View Article and Find Full Text PDFMalignant histiocytosis associated with mediastinal germ cell tumor: A case report.
World J Clin Cases
July 2022
Department of Medical Oncology, Pediatric Oncology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Background: Germ cell tumors (GCTs) account for 2% of human malignancies but are the most common malignant tumors among males aged 15-35. Since 1983, an association between mediastinal GCT (MGCT) and hematologic malignancies has been recognized.
Case Summary: We report a case in which malignant histiocytosis was associated with mediastinal GCTs.
Orbital histiocytosis with systemic involvement: A case with complex affiliations.
Saudi J Ophthalmol
July 2021
Department of Ophthalmology, University Hospital of Gran Canaria Doctor Negrín, Las Palmas, Spain.
A 70-year-old male presented with orbital masses affecting the muscular cone. His past medical history was notable for diabetes mellitus, ischemic cardiopathy, sleep-apnea syndrome, and multiple serous effusions. The first biopsy specimen of affected orbital tissue revealed fibrohistiocytic infiltration resembling xanthogranuloma or Erdheim-Chester disease (ECD).
View Article and Find Full Text PDFErdheim-Chester Disease: A Rare Presentation of a Rare Disease.
J Investig Med High Impact Case Rep
September 2016
Henry Ford Hospital, Detroit, MI, USA.
Erdheim-Chester disease (ECD) is a rare, xanthogranulomatous, non-Langerhans cell histiocytosis with frequent systemic involvement. Although the diagnosis is based on characteristic histological and radiological findings, its identification can be challenging because of its heterogeneous presentation. Osteosclerosis of long bones, often associated with bone pain, is the most common initial manifestation, followed by extraskeletal manifestations in approximately 50% of cases.
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