Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis presenting most commonly with bone and central nervous system symptoms, including but not limited to bone pain and diabetes insipidus. We present a known case of ECD, which was referred for secondary hypertension workup and diagnosed with severe, proximal, bilateral renal artery stenosis.
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| http://dx.doi.org/10.1159/000471760 | DOI Listing |
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Efficacy of Combined Encorafenib and Binimetinib Treatment for Erdheim-Chester Disease Harboring Concurrent BRAF and KRAS Mutations: A Case Report.
Cancer Rep (Hoboken)
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Department of Hematology and Clinical Immunology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Background: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with diverse clinical manifestations, often associated with mutations in the mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/ERK) pathway. BRAF and KRAS mutations, which are driver mutations of oncogenes, participate in the same signaling pathway (MAPK/ERK pathway) and are usually mutually exclusive. We report a case of ECD with concurrent BRAF and KRAS mutations treated using BRAF and MEK inhibitors.
View Article and Find Full Text PDFApproach to the Patient: From Endocrinopathy to the Diagnosis of a Histiocytic Disorder.
J Clin Endocrinol Metab
December 2024
Division of Hematology- Oncology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
Endocrinopathies are frequently the initial presentation of histiocytic neoplasms, which are rare hematologic disorders affecting multiple organ systems. Langerhans cell histiocytosis and Erdheim-Chester disease are 2 such disorders known to infiltrate the hypothalamus and/or pituitary gland, leading to arginine vasopressin deficiency (AVP-D) and anterior pituitary dysfunction (APD) in 20% to 30% of cases, often as the first manifestation. Conversely, histiocytic disorders account for a notable proportion (10-15%) of all pituitary stalk lesions.
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Mod Rheumatol Case Rep
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The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.
The patient was a 57-year-old man who developed bilateral thigh pain and chest tightness one year ago. Chest CT scan showed reticular shadows, thickened interlobular septa in both lung fields, and pericardial effusion. Three months ago, his symptoms worsened.
View Article and Find Full Text PDFTotal Hip Replacement in a Patient with Erdheim-Chester's Disease: A Case Report.
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Max Institute of Musculoskeletal Sciences, Max Super Speciality Hospital, Saket, New Delhi, India.
Case: Erdheim-Chester's disease (ECD) is a rare multisystem disorder considered as a neoplasm of non-Langerhans cell histiocytes. We report a case of uncemented total hip arthroplasty in a 74-year-old patient with ECD for femoral neck fracture with pathological involvement of distal metaphysis and diaphysis. We reviewed the literature on bony involvement.
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Skeletal Radiol
December 2024
Department of Radiology, Division of Musculoskeletal Imaging and Intervention, University of Washington, Seattle, WA, USA.
Objective: To describe the clinical presentations and radiological manifestations of Erdheim-Chester disease (ECD) in the extremities, with particular emphasis on radiologic findings, as radiographs are typically the initial imaging modality used in clinical practice.
Methods: Following the PRISMA guidelines, a comprehensive systematic search was performed across Scopus, PubMed, Web of Science, and Embase databases, covering case reports from inception until August 1, 2024. Included were studies with pathologically confirmed ECD (CD68 positive and CD1a negative) that were evaluated with at least one imaging modality and provided detailed descriptions of radiological findings.
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