ReviewCurrent rheumatology reports2014
Erdheim-Chester disease.
Review in Current rheumatology reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 55 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease
A Phase II Therapeutic Trial of the Use of Dabrafenib and Trametinib in Patients With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease
Who cites it
55 citing papers in PubMed, 131 citations in OpenAlex.
- Dabrafenib plus trametinib in BRAF V600E-mutant Erdheim-Chester disease: a case series including CNS involvement.International journal of hematology · 2026Article
- Case Report: Pediatric Erdheim-Chester disease with bilateral chorioretinal and central nervous system infiltration.Frontiers in medicine · 2026Article
- Article
- Comprehensive case reports on cardiac manifestations in Erdheim-Chester disease: Imaging and clinical insights.Radiology case reports · 2025Article
- Article
- Molecular Mutations in Histiocytosis: A Comprehensive Survey of Genetic Alterations.Molecular biotechnology · 2025Review
- Erdheim-Chester Disease in Adults: 11 Cases from a Canadian Rare Diseases Program.Clinical hematology international · 2025Article
- Erdheim-Chester disease: An elusive diagnosis in a 50-year-old Ethiopian man presenting with diffuse sclerotic bone lesion.Clinical case reports · 2024Article
- Atypical case of Erdheim-Chester Disease involving bilateral orbits.American journal of ophthalmology case reports · 2024Article
- Erdheim‑Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review.Experimental and therapeutic medicine · 2024Article
- Apparently isolated CNS involvement in Erdheim-Chester disease: Case report.Radiology case reports · 2023Article
- Article
- Psychiatric disorders, personality and neuropsychological alterations in Erdheim-Chester disease.Orphanet journal of rare diseases · 2023Article
- Erdheim-Chester disease: look it in the eye. An orbital magnetic resonance imaging study.Haematologica · 2022Article
- A Patient with Erdheim-Chester Disease Limited to Central Nervous System.Neurology international · 2022Article
- Erdheim Chester Disease - Unusual Presentation with Isolated Skeletal Lytic Lesions.Journal of orthopaedic case reports · 2022Article
- Erdheim-Chester disease presenting as an intracardiac mass and pericardial effusion confirmed by biopsy: a case report.European heart journal. Case reports · 2021Article
- Osteoblast Dysfunction in Non-Hereditary Sclerosing Bone Diseases.International journal of molecular sciences · 2021Review
- Erdheim-Chester disease: an unusual aetiology of bilateral lipomatous perinephric masses.BMJ case reports · 2021Article
- Clinical presentation, imaging and response to interferon-alpha therapy in Erdheim-Chester disease: case-based review.Rheumatology international · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Erdheim-Chester disease (ECD) is a rare (approximately 500 known cases worldwide), non-inherited, non-Langerhans form of histiocytosis of unknown origin, first described in 1930. It is characterized by xanthomatous or xanthogranulomatous infiltration of tissues by foamy histiocytes, "lipid-laden" macrophages, or histiocytes, surrounded by fibrosis. Diagnosis of ECD involves the analysis of histiocytes in tissue biopsies: these are typically foamy and CD68+ CD1a- in ECD, whereas in Langerhans cell histiocytosis (LCH) they are CD68+ CD1a+. ⁹⁹Technetium bone scintigraphy revealing nearly constant tracer uptake by the long bones is highly suggestive of ECD, and a "hairy kidney" appearance on abdominal CT scan is observed in approximately half of ECD cases. Central nervous system involvement is a strong prognostic factor and an independent predictor of death in cases of ECD. Optimum initial therapy for ECD seems to be administration of interferon α (or pegylated interferon α), and prolonged treatment significantly improves survival; however, tolerance may be poor. Cases of ECD present with strong systemic immune activation, involving IFNα, IL-1/IL1-RA, IL-6, IL-12, and MCP-1, consistent with the systemic immune Th-1-oriented disturbance associated with the disease. More than half of ECD patients carry the BRAF(V600E) mutation, an activating mutation of the proto-oncogene BRAF. A small number of patients harboring this mutation and with severe multisystemic and refractory ECD have been treated with vemurafenib, a BRAF inhibitor, which was proved very beneficial.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.