Raras
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Doença de Erdheim-Chester
ORPHA:35687CID-10 · D76.3CID-11 · 2B31.YDOENÇA RARA

A Doença de Erdheim-Chester (DCE), um tipo de histiocitose não-Langerhans, é uma doença que atinge vários sistemas do corpo. Ela se caracteriza por vários sintomas e sinais, como problemas nos ossos com dor óssea, olhos saltados (exoftalmia), diabetes insipidus, problemas nos rins e/ou afetação do sistema nervoso central (SNC, que inclui o cérebro e a medula espinhal) e do sistema cardiovascular (coração e vasos sanguíneos).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Doença de Erdheim-Chester (DCE), um tipo de histiocitose não-Langerhans, é uma doença que atinge vários sistemas do corpo. Ela se caracteriza por vários sintomas e sinais, como problemas nos ossos com dor óssea, olhos saltados (exoftalmia), diabetes insipidus, problemas nos rins e/ou afetação do sistema nervoso central (SNC, que inclui o cérebro e a medula espinhal) e do sistema cardiovascular (coração e vasos sanguíneos).

Pesquisas ativas
11 ensaios
26 total registrados no ClinicalTrials.gov
Publicações científicas
1.450 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
500
pacientes catalogados
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D76.3
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
7 sintomas
🫁
Pulmão
4 sintomas
❤️
Coração
4 sintomas
👁️
Olhos
4 sintomas
📏
Crescimento
3 sintomas
🧠
Neurológico
3 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

90%prev.
Dor óssea
Muito frequente (99-80%)
90%prev.
Diabetes insipidus
Muito frequente (99-80%)
90%prev.
Disúria
Muito frequente (99-80%)
90%prev.
Perda de peso
Muito frequente (99-80%)
90%prev.
Osteólise
Muito frequente (99-80%)
90%prev.
Xantelasma
Muito frequente (99-80%)
41sintomas
Muito frequente (16)
Frequente (5)
Ocasional (20)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 41 características clínicas mais associadas, ordenadas por frequência.

Dor ósseaBone pain
Muito frequente (99-80%)90%
Diabetes insipidus
Muito frequente (99-80%)90%
DisúriaDysuria
Muito frequente (99-80%)90%
Perda de pesoWeight loss
Muito frequente (99-80%)90%
OsteóliseOsteolysis
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.450PubMed
Últimos 10 anos200publicações
Pico2025115 papers
Linha do tempo
2026Hoje · 2026🧪 2011Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 32
2Fase 26
1Fase 13
·Pré-clínico8
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 19 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença de Erdheim-Chester

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

8 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

26 ensaios clínicos encontrados, 11 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
939 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 939

#1

Multiple opportunistic infections revealing Erdheim-Chester disease: an atypical presentation.

BMJ case reports2026 Feb 19

This case describes a man in his mid 60s from Mexico who presented with respiratory failure and elevated inflammatory biomarkers. Initial investigations revealed multiple opportunistic infections. A PET-CT scan showed variable uptake in bilateral intraconal masses, dural venous sinuses, paranasal sinuses, lungs, pericardium and both distal femurs. Bone biopsy confirmed clonal histiocytosis (CD68+, CD163+, Fascin+, BRAF-V600E+), leading to a diagnosis of Erdheim-Chester disease (ECD), a rare non-Langerhans histiocytosis affecting multiple systems.As vemurafenib was unavailable in Mexico, pegylated interferon alpha (PEG-IFN-α) was initiated, producing significant clinical and biomarker improvement. The patient was discharged in stable condition and continues close multidisciplinary follow-up with infectious disease, cardiology, nephrology, pulmonology and haematology teams.This case highlights the importance of considering ECD in the differential diagnosis of multisystem diseases of unknown origin, especially with unusual manifestations such as multiple opportunistic infections, and reinforces the value of a coordinated, multidisciplinary approach in managing complex presentations.

#2

RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.

Cancer cell2026 Jan 12

Histiocytic neoplasms are clonal disorders of the monocyte/macrophage lineage defined by mutations activating mitogen-activated protein kinase (MAPK) signaling. Recently, the MEK1/2 inhibitor cobimetinib was FDA-approved for patients with adult histiocytoses. Here, aided by a prospective registry of patients with histiocytoses (NCT03329274), we identify that MEK1/2 mutations which constitutively activate MEK independently of RAF are associated with worse progression-free survival with MEK1/2 inhibition as compared to patients with other MEK1/2 mutational classes. The most common RAF-independent MEK1 mutation (MEK1E102_I103del) drove a lethal histiocytic-like neoplasm in mice, which was sensitive to the ERK1/2 inhibitor ulixertinib. We subsequently treated five MEK1E102_I103del-mutant patients with ulixertinib on prospective protocols, four of whom were refractory to MEK inhibition. Four of five patients experienced objective responses to ulixertinib. These data reveal the impact of oncogenic MEK mutations in vivo, identify patients with likelihood of resistance to MEK inhibition, and nominate ERK inhibition to overcome resistance to MEK inhibition in histiocytoses.

#3

A Rare Case of Pediatric BRAF V600E-Mutated Erdheim-Chester Disease With Isolated Central Nervous System Onset: Diagnosis, Treatment, and Efficacy Evaluation.

Pediatric blood &amp; cancer2026 Mar 13
#4

Erdheim-Chester disease mimicking Wilms tumor in a child: a diagnostic challenge.

BMC pediatrics2026 Mar 12
#5

Epidemiology of Erdheim-Chester disease in the United States: a SEER-based analysis.

Blood neoplasia2026 Feb

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.165 artigos no totalmostrando 196

2026

Erdheim-Chester Disease: A Diagnostic Challenge.

Cureus
2026

Clonally Related Chronic Myelomonocytic Leukemia and Erdheim-Chester Disease with KRAS Mutation: A Rare and Challenging Case.

Acta medica portuguesa
2026

A Rare Case of Pediatric BRAF V600E-Mutated Erdheim-Chester Disease With Isolated Central Nervous System Onset: Diagnosis, Treatment, and Efficacy Evaluation.

Pediatric blood &amp; cancer
2026

Erdheim-Chester disease mimicking Wilms tumor in a child: a diagnostic challenge.

BMC pediatrics
2026

When Erdheim-Chester Disease Reaches the Pectoral Muscle.

European journal of case reports in internal medicine
2026

Clinical Images: Erdheim-Chester disease presenting with fever, enlarged lymph nodes, and monoallelic BRAF (V600E) mutation.

ACR open rheumatology
2026

CD71 expression in Rosai-Dorfman disease: a useful adjunct marker in the differential diagnosis of histiocytic proliferations.

Histopathology
2026

A Systematic Review of Erdheim-Chester Disease and IgG4-Related Disease: Building a Diagnostic Framework for the Rheumatologist.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2026

Multiple opportunistic infections revealing Erdheim-Chester disease: an atypical presentation.

BMJ case reports
2026

Systemic Xanthogranuloma or Erdheim-Chester disease: A systematic review re-examining the classification challenge.

British journal of haematology
2026

Perioperative multidisciplinary rescue of a patient with Erdheim - Chester disease and multi-system involvement: a case report.

Frontiers in medicine
2026

Kidney Transplantation in Patients With Erdheim-Chester Disease.

Kidney international reports
2026

Incidental Diagnosis of Erdheim-Chester Disease in a 42-Year-Old Man With Persistent Elevated ESR and Peri-Ocular Xanthomas: A Case Report.

Clinical case reports
2026

Diagnostic Yield and Risks Associated With Retroperitoneal Biopsy in Erdheim-Chester Disease.

American journal of hematology
2026

Epidemiology of Erdheim-Chester disease in the United States: a SEER-based analysis.

Blood neoplasia
2026

Erdheim-Chester disease presenting with multisystem involvement: A case report.

World journal of clinical cases
2025

Fibroinflammatory Diseases of Aorta: The Inside Look.

Aorta (Stamford, Conn.)
2026

Erdheim-Chester disease mimicking IgG4-related disease.

Modern rheumatology case reports
2026

Pleuropulmonary Involvement in Erdheim-Chester Disease: Analysis of 24 Biopsy-Proven Cases.

Mayo Clinic proceedings
2026

Delayed Neurologic Response to Dabrafenib and Trametinib in the Case of Mixed Histiocytosis (LCH/ECD): Case Report and Literature Review.

Reports (MDPI)
2026

Nanoparticle-enhanced cytology: a 2025 breakthrough for rapid diagnosis of Erdheim-Chester disease.

Annals of medicine and surgery (2012)
2026

Cyclin D1 Overexpression With Cytoplasmic Localization Distinguishes Erdheim-Chester Disease From Reactive Histiocytic Infiltrates.

The American journal of surgical pathology
2026

Cone beam CT-guided biopsy of a petrous apex lesion via the contralateral subzygomatic transclival approach.

Journal of neurointerventional surgery
2025

[Etiological evaluation of pericardial effusion: A case report of adult ECD-LCH overlap syndrome].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2026

From a Long-Standing Yellowish Plaque to a Diagnosis of a Rare Disorder: A Case of Erdheim-Chester Disease Treated With Vemurafenib.

American journal of medical genetics. Part A
2026

Clinicopathological insights into ophthalmic Rosai-Dorfman disease: A 15-year retrospective analysis.

Indian journal of ophthalmology
2026

CHOROIDAL INFILTRATION IN ERDHEIM-CHESTER DISEASE: A CASE SERIES.

Retinal cases &amp; brief reports
2025

Assessing patient risk, benefit, and outcomes in drug development: a decade of vemurafenib clinical trials.

Melanoma management
2025

The xanthogranuloma family of histiocytic neoplasms in the molecular era: Erdheim-Chester disease and beyond.

Hematology. American Society of Hematology. Education Program
2025

Unemployment in patients with histiocytic neoplasms is frequent and associated with clinical and treatment characteristics.

Haematologica
2025

miRNAs in Erdheim-Chester Disease: A Paradigm of Multisystem Histiocytosis.

The journal of gene medicine
2025

A Rare Case of Erdheim-Chester Disease with Pseudoprogression in the CNS.

Journal of blood medicine
2026

Characteristics of histiocytic neoplasms presenting as breast masses.

British journal of haematology
2025

Mixed Erdheim-Chester disease with thoraco-abdominal involvement.

Acta radiologica open
2025

Intra-arterial melphalan for treatment of neurologic histiocytic neoplasms.

Journal of the neurological sciences
2026

Real-world outcomes in adult histiocytosis: the uncharted territory of orphan diseases.

Leukemia &amp; lymphoma
2025

Erdheim-Chester Disease Mimicking a Malignant Pituitary Stalk Tumor With Ventricular Dissemination: A Case Report.

Brain tumor research and treatment
2025

Case Report: When an unknown fever unmasks Erdheim-Chester disease: a case showing the use of multimodality imaging and the successful interferon alpha therapy.

F1000Research
2025

Efficacy and safety of Dabrafenib in Erdheim-Chester disease.

Annals of hematology
2026

Real-Life Efficacy and Safety of BRAF Inhibitors in Erdheim-Chester Disease.

American journal of hematology
2025

Erdheim-Chester disease: A multisystem non-Langerhans cell histiocytosis with cutaneous involvement.

The journal of the Royal College of Physicians of Edinburgh
2025

[Molecular targeted therapy for Erdheim-Chester disease].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2025

Histiocyte Society blueprint for non-Langerhans cell histiocytosis research: unraveling complex diseases through collaboration.

Haematologica
2026

RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.

Cancer cell
2025

Erdheim-Chester disease with recurrent fever, pneumonia, and autoimmune seropositivity for the BRAF V600E mutation.

QJM : monthly journal of the Association of Physicians
2025

Erdheim-Chester Disease in Adults: 11 Cases from a Canadian Rare Diseases Program.

Clinical hematology international
2025

Erdheim-Chester Disease Masquerading as Leukemia: Outwitting the Need for Transplant.

Cureus
2025

Performance of Large Language Models in Diagnosing Rare Hematologic Diseases and the Impact of Their Diagnostic Outputs on Physicians: Combined Retrospective and Prospective Study.

Journal of medical Internet research
2025

Epigenetic dysregulation in Erdheim-Chester disease: perspectives from tissue and blood.

Leukemia
2025

Erdheim-Chester disease: unveiling hidden manifestations through two case reports.

Frontiers in oncology
2025

Innovative sequential therapy in a rare case of refractory Erdheim-Chester disease with bilateral pulmonary involvement.

Journal of chemotherapy (Florence, Italy)
2025

Luvometinib in patients with Langerhans cell histiocytosis, Erdheim-Chester disease, and other histiocytic neoplasms: a single-arm, multicentre, phase 2 study.

EClinicalMedicine
2025

Erdheim-Chester disease with predominant cerebellar manifestations: a case report with literature review.

Oxford medical case reports
2025

Case Report: Relapsing pleural effusions and coated aorta revealing Erdheim-Chester disease.

Frontiers in immunology
2025

Reactive Histiocytic Proliferation in Rheumatoid Arthritis Mimicking Erdheim-Chester Disease.

Cureus
2025

Kidney Involvement in Erdheim-Chester Disease.

Kidney international reports
2025

Erdheim-Chester disease presenting with aortic valvulopathy and coronary stenosis: a diagnostic challenge.

European heart journal. Case reports
2025

Langerhans cell histiocytosis with mesenteric involvement successfully treated with trametinib: a rare cause of small intestine obstruction.

International journal of hematology
2025

Multifocal sclerotic lesions in Erdheim-Chester disease successfully treated with tocilizumab.

Immunotherapy
2025

Atypical cutaneous manifestation of Erdheim-Chester disease successfully treated using medical and laser therapy.

JAAD case reports
2025

18F FDG PET/CT in a Rare Case of Erdheim-Chester Disease with Extensive Cutaneous and Skeletal Involvement.

Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India
2025

[Case report of Erdheim-Chester disease: a challenge for clinicians and radiologists].

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2025

Multifocal intra-cranial masses: Late presentation of an uncommon histiocytic disorder.

Radiology case reports
2025

Cardiovascular degeneration in Erdheim-Chester disease: prevalence, burden, and outcomes.

Blood advances
2025

Unraveling the molecular landscape of Erdheim-Chester disease: new insights from methylome and transcriptome integration.

Leukemia
2026

Rosai-Dorfman Disease With Novel BRAF Fusion Involving the Central Nervous System.

International journal of surgical pathology
2026

[A circuitous route to the diagnosis of a very rare disease].

Innere Medizin (Heidelberg, Germany)
2026

Erdheim-Chester Disease Presenting with Bradycardia.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2025

Primary central nervous system mucosa-associated lymphoid tissue lymphoma: a diagnostic challenge.

BJR case reports
2025

"Crab sign" in an ataxia patient with central nervous system Erdheim Chester disease: a novel neuroimaging finding with review of literature.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Case Report: The rare pancreatic involvement in Erdheim-Chester disease.

Frontiers in immunology
2025

Hematolymphoid Tumors of Bone.

Surgical pathology clinics
2025

Molecular profiling is critical to guide MEK inhibitor use in Erdheim-Chester disease.

Leukemia
2025

Clinical and radiological insights into secondary hypophysitis: A single-center experience with a focus on tuberculosis.

Endocrine
2025

Unraveling cutaneous histiocytosis: insights into histology, pathogenesis, diagnosis, and treatment pitfalls.

Frontiers in medicine
2025

Symptoms, unmet needs, and quality of life in Erdheim-Chester disease: a longitudinal registry-based analysis.

Blood advances
2026

Kidney involvement in multisystem diseases: a review and key imaging findings.

Abdominal radiology (New York)
2025

[Systemic Erdheim-Chester disease].

Revista medica de Chile
2025

Diffuse large B-cell lymphoma mimicking as Erdheim-Chester disease on 18F-FDG PET/CT.

Revista espanola de medicina nuclear e imagen molecular
2025

Erdheim-Chester Disease Manifesting Without Long Bone Involvement.

Respirology case reports
2025

[Clinicopathological analysis of intraosseous hibernoma].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2025

Erdheim-Chester with central nervous system involvement: Complex histopathological diagnosis and neurosurgical challenges in a rare histiocytic disorder.

Surgical neurology international
2024

Real-world experience with targeted therapy in patients with histiocytic neoplasms in the Netherlands and in Belgium.

Blood neoplasia
2025

Erdheim Chester disease: Diagnosis and follow-up on PET/CT [18F]FDG.

Revista espanola de medicina nuclear e imagen molecular
2025

Erdheim-Chester Disease of the Jaws: A Case Report and Review of the Literature.

Head and neck pathology
2025

Cluster analysis reveals the clinical spectrum of Erdheim-Chester disease.

Leukemia
2025

Extensive Bone Marrow Involvement by BRAF V660E-Mutated Bi-Phenotypic Erdheim-Chester Neoplasm/Rosai-Dorfman Disease (Mixed Histiocytic Neoplasm) with Atypical Histological Features and Fulminant Hemophagocytosis.

Case reports in oncology
2025

Pediatric Pathology: Emerging Entities, Current Trends, and Comprehensive Updates, "Histiocytosis".

Surgical pathology clinics
2025

Erdheim-Chester Disease Diagnosed by a Pericardial Fluid Cell Block Analysis.

Internal medicine (Tokyo, Japan)
2025

A Case Report of Xanthelasma and the Associated Differential Diagnosis.

Cureus
2025

Merkel cell polyomavirus DNA sequences in tissue from a patient with Histiocytosis.

Journal of clinical and experimental hematopathology : JCEH
2025

[A case of Erdheim-Chester disease with recurrent relapses requiring differentiation from infectious diseases].

Rinsho shinkeigaku = Clinical neurology
2025

MEK inhibitors are effective in Erdheim-Chester disease regardless of MAPK pathway mutations.

Leukemia
2025

NTRK1 Gene Fusions Are Frequent in Juvenile Xanthogranuloma.

The American journal of surgical pathology
2025

Erdheim Chester Disease Presenting with Cardiac Tamponade and Renomegaly.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2025

Molecular Pathogenesis of the Histiocytic and Dendritic Cell Neoplasms.

Hematology/oncology clinics of North America
2025

Decoding Erdheim-Chester Disease: a Pictorial Essay of the Radiologic and Pathologic Findings, and its Main Differential Diagnoses.

Clinical radiology
2025

Very low-dose vemurafenib maintenance for cardiac Erdheim Chester disease.

Blood research
2026

Histiocytoses and reactive proliferations of histiocytes: current state of the art and evolving concepts-a report from the joint CSHP-EA4HP-SH workshop 2024, Hefei, China.

Virchows Archiv : an international journal of pathology
2025

[Erdheim-Chester disease associated with Langerhans cell histiocytosis: A case of a mixed form].

La Revue de medecine interne
2025

Mass-Forming Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: Diagnostic Complexities in Granulomatous Disease. A Case Report.

ACR open rheumatology
2025

Orbital and ocular adnexal histiocytic tumors; a multidisciplinary literature review.

Orbit (Amsterdam, Netherlands)
2025

Novel Diagnosis of Isolated Cardiac Erdheim-Chester Disease by Interatrial Biopsy Using Frozen Section Examination.

Interventional cardiology (London, England)
2025

Temporal bone Langerhans cell histiocytosis with uterine cervix involvement and cutaneous Erdheim-Chester disease.

BMJ case reports
2025

Stereotypical depiction of Erdheim-Chester Disease on Tc-99m MDP skeletal scintigraphy.

JPMA. The Journal of the Pakistan Medical Association
2025

Monocytic meningitis complicating histiocytosis and response to MEK-inhibitor: a case series.

Annals of hematology
2025

Neurological manifestations of Erdheim-Chester disease and their management: A scoping review.

Medicine
2025

Clinical Images: Penetrating aortic ulceration as an initial presentation of Erdheim-Chester disease.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2025

Erdheim Chester Disease and Its Impact on Dental Care: A Case Report.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2025

Role of clonal inflammatory microglia in histiocytosis-associated neurodegeneration.

Neuron
2025

Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim-Chester Disease (ECD).

Cancers
2025

A patient with Eradheim-Chester disease presenting with progressive cystic lung lesions and confirmed pulmonary artery hypertension: a case report.

BMC pulmonary medicine
2025

Case report: Pulmonary non-Langerhans cell histiocytosis in a dog with acute interstitial granulomatous pneumonia.

Frontiers in veterinary science
2025

Long-term outcomes with single-agent BRAF inhibitor therapy in Erdheim-Chester disease.

Blood
2025

An unusual case of multiple primary tumours involving the long bone and oral cavity.

Oral and maxillofacial surgery
2025

Melanoma With RNF11::BRAF Fusion: A Novel Fusion Previously Undescribed in Melanoma.

The American Journal of dermatopathology
2025

When flames hit the brain, and the spark is far away: the role of PET-CT in diagnosing neurological Erdheim-Chester disease.

Arquivos de neuro-psiquiatria
2025

Risk of Second Cancer in Erdheim-Chester Disease.

JAMA oncology
2025

Langerhans Cell Histiocytosis and Other Histiocytic Lesions.

Head and neck pathology
2024

Unveiling the enigma: Navigating extranodal Rosai-Dorfman disease in the maxilla - A teen's journey.

Journal of oral and maxillofacial pathology : JOMFP
2025

Efficacy of MEK inhibitors in Erdheim-Chester disease: impact of MAPK pathway pathogenic variants.

Leukemia
2025

Comprehensive case reports on cardiac manifestations in Erdheim-Chester disease: Imaging and clinical insights.

Radiology case reports
2025

A Rare Case of Isolated Central Nervous System Neoplasm With Histiocytic Features.

Brain tumor research and treatment
2025

Erdheim-Chester Disease with Calvarial Involvement: A Rare Case of Histiocytosis.

Turkish neurosurgery
2025

Erdheim-Chester Disease With Significant Response of Large Vessel Disease to Cobimetinib Monotherapy.

American journal of hematology
2025

Recent advances in therapeutic strategies of Erdheim-Chester disease.

Naunyn-Schmiedeberg's archives of pharmacology
2025

From rarity to reality: Poland's first case of neurological Erdheim-Chester Disease with cerebellar manifestations.

Neurologia i neurochirurgia polska
2025

Anakinra improves retention rate of targeted treatments in Erdheim-Chester disease.

Rheumatology (Oxford, England)
2025

Clinical Spectrum and Outcome of Kidney Involvement in Non-Langerhans Histiocytosis.

Kidney international reports
2024

Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.

The Turkish journal of pediatrics
2025

Updates on Langerhans cell histiocytosis and other histiocytosis in children: invited review-challenges and novelties in paediatric tumours.

Virchows Archiv : an international journal of pathology
2025

Treatment holidays in patients with Erdheim-Chester disease receiving vemurafenib: a prospective pilot study.

Blood advances
2024

[Erdheim Chester Histiocytosis as a Diagnostic Challenge in a Systemic Presentation: A Case Report].

Revista medica de Chile
2025

Erdheim-Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances.

Disease-a-month : DM
2025

Foreword for Erdheim-Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances.

Disease-a-month : DM
2025

Multimodality Imaging in a Patient with Erdheim Chester Disease with Cardiovascular Involvement.

Acta medica Lituanica
2025

Extensive sclerotic skin involvement in Erdheim-Chester disease.

QJM : monthly journal of the Association of Physicians
2024

Erdheim-Chester Disease: A Case Report Exploring Multisystemic Involvement.

Cureus
2024

Overlap syndrome of Erdheim-Chester disease and Langerhans cell histiocytosis: A case report.

CytoJournal
2024

Paradoxical coronary embolism in Erdheim-Chester disease: invasive assessment and multidisciplinary management.

Oxford medical case reports
2024

Efficacy of Combined Encorafenib and Binimetinib Treatment for Erdheim-Chester Disease Harboring Concurrent BRAFV600E and KRASG12R Mutations: A Case Report.

Cancer reports (Hoboken, N.J.)
2025

Approach to the Patient: From Endocrinopathy to the Diagnosis of a Histiocytic Disorder.

The Journal of clinical endocrinology and metabolism
2025

A case of Erdheim-Chester disease-a mimicker of IgG4-related disease and large vessel vasculitis.

Modern rheumatology case reports
2024

Total Hip Replacement in a Patient with Erdheim-Chester's Disease: A Case Report.

JBJS case connector
2025

Radiological assessment of extremity bone involvement in Erdheim-Chester disease: a systematic review of case reports.

Skeletal radiology
2025

Foamy Cell Angiosarcoma Resembling a Xanthomatous Histiocytic Infiltrate Without Evidence of Vascular Malignancy.

Journal of cutaneous pathology
2025

Anxiety and depression in patients with histiocytic neoplasms and their associated clinical features.

Blood advances
2025

An Autopsied Case of Erdheim-Chester Disease with Severe Cardiovascular Involvement.

Internal medicine (Tokyo, Japan)
2025

Erdheim-Chester Disease: Expanding the Understanding of Cardiovascular Involvement.

Internal medicine (Tokyo, Japan)
2024

BRAF V600E mutation and high expression of PD-L1 in Rosai-Dorfman disease: case report and review of the literature.

Journal of hematopathology
2025

Neuroimaging Spectrum of Erdheim-Chester Disease: An Image-Based Review.

AJNR. American journal of neuroradiology
2024

Personalized Medicine in Histiocytic Disorders: Novel Targets in Patients Without MAPK Alterations.

JCO precision oncology
2025

IRF8 Demonstrates Positivity in a Significant Subset of Histiocytic and Dendritic Cell Neoplasms.

The American journal of surgical pathology
2025

Erdheim Chester disease presenting as bilateral breast dimpling and discoloration.

Radiology case reports
2024

Beyond the surface: A comprehensive radiological review of primary retroperitoneal neoplasms.

Clinical imaging
2025

Erdheim-Chester disease is often complicated by neurological disorders.

Neurologia i neurochirurgia polska
2025

Breast Erdheim-Chester disease: an unusual presentation of a rare disorder.

QJM : monthly journal of the Association of Physicians
2025

Clinical Images: A rare and misleading condition: isolated skeletal involvement of Erdheim-Chester disease.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2024

Case report: Tenosynovial giant cell tumor.

Frontiers in oncology
2024

Progression of Arrhythmia in a Patient of Erdheim-Chester Disease After Interferon-α Withdrawal.

The Canadian journal of cardiology
2024

Xanthelasma and arginine vasopressin deficiency (central diabetes insipidus), think Erdheim Chester disease.

BMJ case reports
2024

Histiocytic neoplasms: a brief review and differential diagnosis.

Journal of clinical and experimental hematopathology : JCEH
2024

CD68-Negative Histiocytoses with Cardiac Involvement, Associated with COVID-19.

International journal of molecular sciences
2025

Clinical Images: Erdheim-Chester disease presenting with palpitations and spondylopathy.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2024

Erdheim-Chester disease: An elusive diagnosis in a 50-year-old Ethiopian man presenting with diffuse sclerotic bone lesion.

Clinical case reports
2024

A rare case of Erdheim Chester disease.

Radiology case reports
2024

Utility of MR spectroscopy and MR perfusion in characterizing intracranial pathology in Erdheim-Chester disease: A case report.

Radiology case reports
2024

Central nervous system involvement in Erdheim-Chester disease: a magnetic resonance imaging study.

Clinical imaging
2024

Erdheim-Chester disease in a patient with multiple myeloma.

Blood
2024

Erdheim-Chester Disease Presenting as Bilateral Facial Masses: A case report and review of literature.

Sultan Qaboos University medical journal
2024

Rosai-Dorfman disease presenting as a perirectal mass: A case report and review of diagnostic challenges.

Radiology case reports
2024

Erdheim-Chester disease: A case report emphasizing diagnostic challenges and differential diagnosis.

International journal of rheumatic diseases
2024

Erdheim-Chester Disease Masquerading as CLIPPERS.

Neurology(R) neuroimmunology &amp; neuroinflammation
2024

The utility of orbital imaging in the evaluation of orbital disease.

PloS one
2025

Case Report: Periocular Steroid Injection Combined Vemurafenib Therapy in the Long-term Management of Orbital Involvement of Erdheim-Chester Disease.

Klinische Monatsblatter fur Augenheilkunde
2024

Circulating monocytes decrease significantly following disease-directed therapy and may reflect disease expansion in Langerhans Cell Histiocytosis.

Annals of hematology
2024

Erdheim-Chester disease: a rare renal phenotype and diagnostic conundrum.

Polish archives of internal medicine
2024

Imaging in Erdheim-Chester Disease.

Radiographics : a review publication of the Radiological Society of North America, Inc
2024

Mechanism of neurodegeneration mediated by clonal inflammatory microglia.

bioRxiv : the preprint server for biology
2024

Rare severe constrictive pericarditis complication in Erdheim-Chester disease: A case report and literature review.

Journal of clinical and experimental hematopathology : JCEH
2024

Myocarditis in Erdheim-Chester disease.

Journal of medicine and life
2024

Erdheim Chester disease confirmed by conjunctival biopsy.

Orbit (Amsterdam, Netherlands)
2024

An Unusual Case of Disseminated Erdheim-Chester Disease.

WMJ : official publication of the State Medical Society of Wisconsin
2024

[Erdheim-Chester disease with right atrial mass: a case report].

Zhonghua xin xue guan bing za zhi
2024

The dark side of T2: central nervous system lesions with low signal intensity on T2-weighted imaging.

Radiologia brasileira
2024

Current State of Targeted Therapy in Adult Langerhans Cell Histiocytosis and Erdheim-Chester Disease.

Targeted oncology
2025

Unusual orbital, scleral and choroidal findings in Erdheim-Chester disease: a case report.

Orbit (Amsterdam, Netherlands)
2024

Atypical Bone Involvement in Erdheim-Chester Disease Showing No or Subtle Structure Changes and Increased Activity on FDG PET/CT.

Clinical nuclear medicine
2024

Advancements in the understanding and management of histiocytic neoplasms.

Blood research
2024

[Erdheim-Chester disease manifesting as diabetes insipidus: a case report].

Zhonghua nei ke za zhi
2024

Histological evidence of MAPK pathway activation across subtypes of adult orbital xanthogranulomatous disease irrespective of the detection of oncogenic mutations.

Clinical immunology (Orlando, Fla.)
2024

Tumor-Agnostic Genomic and Clinical Analysis of BRAF Fusions Identifies Actionable Targets.

Clinical cancer research : an official journal of the American Association for Cancer Research
2024

Orbital histiocytosis; From A to Z.

International ophthalmology
2024

A case of adult-onset Still disease with eyelid xanthogranuloma mimicking Erdheim-Chester disease.

Clinical and experimental dermatology
2024

Co-occurrence of Erdheim-Chester disease and clonally evolving acute myeloid leukemia with FLT3-ITD and PTPN11 mutations.

Annals of hematology
2024

Atypical case of Erdheim-Chester Disease involving bilateral orbits.

American journal of ophthalmology case reports
Ver todos os 1.165 no EuropePMC

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Multiple opportunistic infections revealing Erdheim-Chester disease: an atypical presentation.
    BMJ case reports· 2026· PMID 41713886mais citado
  2. RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.
    Cancer cell· 2026· PMID 41135521mais citado
  3. A Rare Case of Pediatric BRAF V600E-Mutated Erdheim-Chester Disease With Isolated Central Nervous System Onset: Diagnosis, Treatment, and Efficacy Evaluation.
    Pediatric blood &amp; cancer· 2026· PMID 41823161mais citado
  4. Erdheim-Chester disease mimicking Wilms tumor in a child: a diagnostic challenge.
    BMC pediatrics· 2026· PMID 41820933mais citado
  5. Epidemiology of Erdheim-Chester disease in the United States: a SEER-based analysis.
    Blood neoplasia· 2026· PMID 41608321mais citado
  6. Case Report: Pediatric Erdheim-Chester disease with bilateral chorioretinal and central nervous system infiltration.
    Front Med (Lausanne)· 2026· PMID 41994452recente
  7. Erdheim-Chester Disease: A Rare Presentation With Atrial Flutter and Severe Sinus Node Dysfunction.
    JACC Case Rep· 2026· PMID 41964632recente
  8. [Presence of IgG4-positive cells in Erdheim-Chester disease. Epiphenomenon or overlap?].
    Medicina (B Aires)· 2026· PMID 41961614recente
  9. Erdheim-Chester disease associated with myeloid neoplasm: Clinical features, molecular landscape, and treatment outcomes.
    Hemasphere· 2026· PMID 41959727recente
  10. Detection of BRAF V600E on the Re-evaluation in Erdheim-Chester Disease with Prior Negative Testing.
    Intern Med· 2026· PMID 41922243recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:35687(Orphanet)
  2. MONDO:0018153(MONDO)
  3. GARD:6369(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q1349259(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença de Erdheim-Chester
Compêndio · Raras BR

Doença de Erdheim-Chester

ORPHA:35687 · MONDO:0018153
Prevalência
<1 / 1 000 000
Casos
500 casos conhecidos
Herança
Not applicable
CID-10
D76.3 · Outras síndromes histiocíticas
CID-11
Ensaios
11 ativos
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0878675
EuropePMC
Wikidata
Wikipedia
Papers 10a
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