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).
Introdução
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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).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 41 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 939
Multiple opportunistic infections revealing Erdheim-Chester disease: an atypical presentation.
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.
RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.
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.
A Rare Case of Pediatric BRAF V600E-Mutated Erdheim-Chester Disease With Isolated Central Nervous System Onset: Diagnosis, Treatment, and Efficacy Evaluation.
Erdheim-Chester disease mimicking Wilms tumor in a child: a diagnostic challenge.
Epidemiology of Erdheim-Chester disease in the United States: a SEER-based analysis.
Publicações recentes
Case Report: Pediatric Erdheim-Chester disease with bilateral chorioretinal and central nervous system infiltration.
Erdheim-Chester Disease: A Rare Presentation With Atrial Flutter and Severe Sinus Node Dysfunction.
[Presence of IgG4-positive cells in Erdheim-Chester disease. Epiphenomenon or overlap?].
Erdheim-Chester disease associated with myeloid neoplasm: Clinical features, molecular landscape, and treatment outcomes.
Detection of BRAF V600E on the Re-evaluation in Erdheim-Chester Disease with Prior Negative Testing.
📚 EuropePMC1.165 artigos no totalmostrando 196
Erdheim-Chester Disease: A Diagnostic Challenge.
CureusClonally Related Chronic Myelomonocytic Leukemia and Erdheim-Chester Disease with KRAS Mutation: A Rare and Challenging Case.
Acta medica portuguesaA Rare Case of Pediatric BRAF V600E-Mutated Erdheim-Chester Disease With Isolated Central Nervous System Onset: Diagnosis, Treatment, and Efficacy Evaluation.
Pediatric blood & cancerErdheim-Chester disease mimicking Wilms tumor in a child: a diagnostic challenge.
BMC pediatricsWhen Erdheim-Chester Disease Reaches the Pectoral Muscle.
European journal of case reports in internal medicineClinical Images: Erdheim-Chester disease presenting with fever, enlarged lymph nodes, and monoallelic BRAF (V600E) mutation.
ACR open rheumatologyCD71 expression in Rosai-Dorfman disease: a useful adjunct marker in the differential diagnosis of histiocytic proliferations.
HistopathologyA 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 & musculoskeletal diseasesMultiple opportunistic infections revealing Erdheim-Chester disease: an atypical presentation.
BMJ case reportsSystemic Xanthogranuloma or Erdheim-Chester disease: A systematic review re-examining the classification challenge.
British journal of haematologyPerioperative multidisciplinary rescue of a patient with Erdheim - Chester disease and multi-system involvement: a case report.
Frontiers in medicineKidney Transplantation in Patients With Erdheim-Chester Disease.
Kidney international reportsIncidental Diagnosis of Erdheim-Chester Disease in a 42-Year-Old Man With Persistent Elevated ESR and Peri-Ocular Xanthomas: A Case Report.
Clinical case reportsDiagnostic Yield and Risks Associated With Retroperitoneal Biopsy in Erdheim-Chester Disease.
American journal of hematologyEpidemiology of Erdheim-Chester disease in the United States: a SEER-based analysis.
Blood neoplasiaErdheim-Chester disease presenting with multisystem involvement: A case report.
World journal of clinical casesFibroinflammatory Diseases of Aorta: The Inside Look.
Aorta (Stamford, Conn.)Erdheim-Chester disease mimicking IgG4-related disease.
Modern rheumatology case reportsPleuropulmonary Involvement in Erdheim-Chester Disease: Analysis of 24 Biopsy-Proven Cases.
Mayo Clinic proceedingsDelayed Neurologic Response to Dabrafenib and Trametinib in the Case of Mixed Histiocytosis (LCH/ECD): Case Report and Literature Review.
Reports (MDPI)Nanoparticle-enhanced cytology: a 2025 breakthrough for rapid diagnosis of Erdheim-Chester disease.
Annals of medicine and surgery (2012)Cyclin D1 Overexpression With Cytoplasmic Localization Distinguishes Erdheim-Chester Disease From Reactive Histiocytic Infiltrates.
The American journal of surgical pathologyCone beam CT-guided biopsy of a petrous apex lesion via the contralateral subzygomatic transclival approach.
Journal of neurointerventional surgery[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 sciencesFrom 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 AClinicopathological insights into ophthalmic Rosai-Dorfman disease: A 15-year retrospective analysis.
Indian journal of ophthalmologyCHOROIDAL INFILTRATION IN ERDHEIM-CHESTER DISEASE: A CASE SERIES.
Retinal cases & brief reportsAssessing patient risk, benefit, and outcomes in drug development: a decade of vemurafenib clinical trials.
Melanoma managementThe xanthogranuloma family of histiocytic neoplasms in the molecular era: Erdheim-Chester disease and beyond.
Hematology. American Society of Hematology. Education ProgramUnemployment in patients with histiocytic neoplasms is frequent and associated with clinical and treatment characteristics.
HaematologicamiRNAs in Erdheim-Chester Disease: A Paradigm of Multisystem Histiocytosis.
The journal of gene medicineA Rare Case of Erdheim-Chester Disease with Pseudoprogression in the CNS.
Journal of blood medicineCharacteristics of histiocytic neoplasms presenting as breast masses.
British journal of haematologyMixed Erdheim-Chester disease with thoraco-abdominal involvement.
Acta radiologica openIntra-arterial melphalan for treatment of neurologic histiocytic neoplasms.
Journal of the neurological sciencesReal-world outcomes in adult histiocytosis: the uncharted territory of orphan diseases.
Leukemia & lymphomaErdheim-Chester Disease Mimicking a Malignant Pituitary Stalk Tumor With Ventricular Dissemination: A Case Report.
Brain tumor research and treatmentCase Report: When an unknown fever unmasks Erdheim-Chester disease: a case showing the use of multimodality imaging and the successful interferon alpha therapy.
F1000ResearchEfficacy and safety of Dabrafenib in Erdheim-Chester disease.
Annals of hematologyReal-Life Efficacy and Safety of BRAF Inhibitors in Erdheim-Chester Disease.
American journal of hematologyErdheim-Chester disease: A multisystem non-Langerhans cell histiocytosis with cutaneous involvement.
The journal of the Royal College of Physicians of Edinburgh[Molecular targeted therapy for Erdheim-Chester disease].
[Rinsho ketsueki] The Japanese journal of clinical hematologyHistiocyte Society blueprint for non-Langerhans cell histiocytosis research: unraveling complex diseases through collaboration.
HaematologicaRAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.
Cancer cellErdheim-Chester disease with recurrent fever, pneumonia, and autoimmune seropositivity for the BRAF V600E mutation.
QJM : monthly journal of the Association of PhysiciansErdheim-Chester Disease in Adults: 11 Cases from a Canadian Rare Diseases Program.
Clinical hematology internationalErdheim-Chester Disease Masquerading as Leukemia: Outwitting the Need for Transplant.
CureusPerformance 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 researchEpigenetic dysregulation in Erdheim-Chester disease: perspectives from tissue and blood.
LeukemiaErdheim-Chester disease: unveiling hidden manifestations through two case reports.
Frontiers in oncologyInnovative sequential therapy in a rare case of refractory Erdheim-Chester disease with bilateral pulmonary involvement.
Journal of chemotherapy (Florence, Italy)Luvometinib in patients with Langerhans cell histiocytosis, Erdheim-Chester disease, and other histiocytic neoplasms: a single-arm, multicentre, phase 2 study.
EClinicalMedicineErdheim-Chester disease with predominant cerebellar manifestations: a case report with literature review.
Oxford medical case reportsCase Report: Relapsing pleural effusions and coated aorta revealing Erdheim-Chester disease.
Frontiers in immunologyReactive Histiocytic Proliferation in Rheumatoid Arthritis Mimicking Erdheim-Chester Disease.
CureusKidney Involvement in Erdheim-Chester Disease.
Kidney international reportsErdheim-Chester disease presenting with aortic valvulopathy and coronary stenosis: a diagnostic challenge.
European heart journal. Case reportsLangerhans cell histiocytosis with mesenteric involvement successfully treated with trametinib: a rare cause of small intestine obstruction.
International journal of hematologyMultifocal sclerotic lesions in Erdheim-Chester disease successfully treated with tocilizumab.
ImmunotherapyAtypical cutaneous manifestation of Erdheim-Chester disease successfully treated using medical and laser therapy.
JAAD case reports18F 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[Case report of Erdheim-Chester disease: a challenge for clinicians and radiologists].
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinMultifocal intra-cranial masses: Late presentation of an uncommon histiocytic disorder.
Radiology case reportsCardiovascular degeneration in Erdheim-Chester disease: prevalence, burden, and outcomes.
Blood advancesUnraveling the molecular landscape of Erdheim-Chester disease: new insights from methylome and transcriptome integration.
LeukemiaRosai-Dorfman Disease With Novel BRAF Fusion Involving the Central Nervous System.
International journal of surgical pathology[A circuitous route to the diagnosis of a very rare disease].
Innere Medizin (Heidelberg, Germany)Erdheim-Chester Disease Presenting with Bradycardia.
Turkish journal of haematology : official journal of Turkish Society of HaematologyPrimary central nervous system mucosa-associated lymphoid tissue lymphoma: a diagnostic challenge.
BJR case reports"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 NeurophysiologyCase Report: The rare pancreatic involvement in Erdheim-Chester disease.
Frontiers in immunologyHematolymphoid Tumors of Bone.
Surgical pathology clinicsMolecular profiling is critical to guide MEK inhibitor use in Erdheim-Chester disease.
LeukemiaClinical and radiological insights into secondary hypophysitis: A single-center experience with a focus on tuberculosis.
EndocrineUnraveling cutaneous histiocytosis: insights into histology, pathogenesis, diagnosis, and treatment pitfalls.
Frontiers in medicineSymptoms, unmet needs, and quality of life in Erdheim-Chester disease: a longitudinal registry-based analysis.
Blood advancesKidney involvement in multisystem diseases: a review and key imaging findings.
Abdominal radiology (New York)[Systemic Erdheim-Chester disease].
Revista medica de ChileDiffuse large B-cell lymphoma mimicking as Erdheim-Chester disease on 18F-FDG PET/CT.
Revista espanola de medicina nuclear e imagen molecularErdheim-Chester Disease Manifesting Without Long Bone Involvement.
Respirology case reports[Clinicopathological analysis of intraosseous hibernoma].
Zhonghua bing li xue za zhi = Chinese journal of pathologyErdheim-Chester with central nervous system involvement: Complex histopathological diagnosis and neurosurgical challenges in a rare histiocytic disorder.
Surgical neurology internationalReal-world experience with targeted therapy in patients with histiocytic neoplasms in the Netherlands and in Belgium.
Blood neoplasiaErdheim Chester disease: Diagnosis and follow-up on PET/CT [18F]FDG.
Revista espanola de medicina nuclear e imagen molecularErdheim-Chester Disease of the Jaws: A Case Report and Review of the Literature.
Head and neck pathologyCluster analysis reveals the clinical spectrum of Erdheim-Chester disease.
LeukemiaExtensive 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 oncologyPediatric Pathology: Emerging Entities, Current Trends, and Comprehensive Updates, "Histiocytosis".
Surgical pathology clinicsErdheim-Chester Disease Diagnosed by a Pericardial Fluid Cell Block Analysis.
Internal medicine (Tokyo, Japan)A Case Report of Xanthelasma and the Associated Differential Diagnosis.
CureusMerkel cell polyomavirus DNA sequences in tissue from a patient with Histiocytosis.
Journal of clinical and experimental hematopathology : JCEH[A case of Erdheim-Chester disease with recurrent relapses requiring differentiation from infectious diseases].
Rinsho shinkeigaku = Clinical neurologyMEK inhibitors are effective in Erdheim-Chester disease regardless of MAPK pathway mutations.
LeukemiaNTRK1 Gene Fusions Are Frequent in Juvenile Xanthogranuloma.
The American journal of surgical pathologyErdheim Chester Disease Presenting with Cardiac Tamponade and Renomegaly.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionMolecular Pathogenesis of the Histiocytic and Dendritic Cell Neoplasms.
Hematology/oncology clinics of North AmericaDecoding Erdheim-Chester Disease: a Pictorial Essay of the Radiologic and Pathologic Findings, and its Main Differential Diagnoses.
Clinical radiologyVery low-dose vemurafenib maintenance for cardiac Erdheim Chester disease.
Blood researchHistiocytoses 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[Erdheim-Chester disease associated with Langerhans cell histiocytosis: A case of a mixed form].
La Revue de medecine interneMass-Forming Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: Diagnostic Complexities in Granulomatous Disease. A Case Report.
ACR open rheumatologyOrbital and ocular adnexal histiocytic tumors; a multidisciplinary literature review.
Orbit (Amsterdam, Netherlands)Novel Diagnosis of Isolated Cardiac Erdheim-Chester Disease by Interatrial Biopsy Using Frozen Section Examination.
Interventional cardiology (London, England)Temporal bone Langerhans cell histiocytosis with uterine cervix involvement and cutaneous Erdheim-Chester disease.
BMJ case reportsStereotypical depiction of Erdheim-Chester Disease on Tc-99m MDP skeletal scintigraphy.
JPMA. The Journal of the Pakistan Medical AssociationMonocytic meningitis complicating histiocytosis and response to MEK-inhibitor: a case series.
Annals of hematologyNeurological manifestations of Erdheim-Chester disease and their management: A scoping review.
MedicineClinical Images: Penetrating aortic ulceration as an initial presentation of Erdheim-Chester disease.
Arthritis & rheumatology (Hoboken, N.J.)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 DentistryRole of clonal inflammatory microglia in histiocytosis-associated neurodegeneration.
NeuronClinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim-Chester Disease (ECD).
CancersA patient with Eradheim-Chester disease presenting with progressive cystic lung lesions and confirmed pulmonary artery hypertension: a case report.
BMC pulmonary medicineCase report: Pulmonary non-Langerhans cell histiocytosis in a dog with acute interstitial granulomatous pneumonia.
Frontiers in veterinary scienceLong-term outcomes with single-agent BRAF inhibitor therapy in Erdheim-Chester disease.
BloodAn unusual case of multiple primary tumours involving the long bone and oral cavity.
Oral and maxillofacial surgeryMelanoma With RNF11::BRAF Fusion: A Novel Fusion Previously Undescribed in Melanoma.
The American Journal of dermatopathologyWhen flames hit the brain, and the spark is far away: the role of PET-CT in diagnosing neurological Erdheim-Chester disease.
Arquivos de neuro-psiquiatriaRisk of Second Cancer in Erdheim-Chester Disease.
JAMA oncologyLangerhans Cell Histiocytosis and Other Histiocytic Lesions.
Head and neck pathologyUnveiling the enigma: Navigating extranodal Rosai-Dorfman disease in the maxilla - A teen's journey.
Journal of oral and maxillofacial pathology : JOMFPEfficacy of MEK inhibitors in Erdheim-Chester disease: impact of MAPK pathway pathogenic variants.
LeukemiaComprehensive case reports on cardiac manifestations in Erdheim-Chester disease: Imaging and clinical insights.
Radiology case reportsA Rare Case of Isolated Central Nervous System Neoplasm With Histiocytic Features.
Brain tumor research and treatmentErdheim-Chester Disease with Calvarial Involvement: A Rare Case of Histiocytosis.
Turkish neurosurgeryErdheim-Chester Disease With Significant Response of Large Vessel Disease to Cobimetinib Monotherapy.
American journal of hematologyRecent advances in therapeutic strategies of Erdheim-Chester disease.
Naunyn-Schmiedeberg's archives of pharmacologyFrom rarity to reality: Poland's first case of neurological Erdheim-Chester Disease with cerebellar manifestations.
Neurologia i neurochirurgia polskaAnakinra improves retention rate of targeted treatments in Erdheim-Chester disease.
Rheumatology (Oxford, England)Clinical Spectrum and Outcome of Kidney Involvement in Non-Langerhans Histiocytosis.
Kidney international reportsGriscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.
The Turkish journal of pediatricsUpdates on Langerhans cell histiocytosis and other histiocytosis in children: invited review-challenges and novelties in paediatric tumours.
Virchows Archiv : an international journal of pathologyTreatment holidays in patients with Erdheim-Chester disease receiving vemurafenib: a prospective pilot study.
Blood advances[Erdheim Chester Histiocytosis as a Diagnostic Challenge in a Systemic Presentation: A Case Report].
Revista medica de ChileErdheim-Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances.
Disease-a-month : DMForeword for Erdheim-Chester disease: Comprehensive insights from genetic mutations to clinical manifestations and therapeutic advances.
Disease-a-month : DMMultimodality Imaging in a Patient with Erdheim Chester Disease with Cardiovascular Involvement.
Acta medica LituanicaExtensive sclerotic skin involvement in Erdheim-Chester disease.
QJM : monthly journal of the Association of PhysiciansErdheim-Chester Disease: A Case Report Exploring Multisystemic Involvement.
CureusOverlap syndrome of Erdheim-Chester disease and Langerhans cell histiocytosis: A case report.
CytoJournalParadoxical coronary embolism in Erdheim-Chester disease: invasive assessment and multidisciplinary management.
Oxford medical case reportsEfficacy of Combined Encorafenib and Binimetinib Treatment for Erdheim-Chester Disease Harboring Concurrent BRAFV600E and KRASG12R Mutations: A Case Report.
Cancer reports (Hoboken, N.J.)Approach to the Patient: From Endocrinopathy to the Diagnosis of a Histiocytic Disorder.
The Journal of clinical endocrinology and metabolismA case of Erdheim-Chester disease-a mimicker of IgG4-related disease and large vessel vasculitis.
Modern rheumatology case reportsTotal Hip Replacement in a Patient with Erdheim-Chester's Disease: A Case Report.
JBJS case connectorRadiological assessment of extremity bone involvement in Erdheim-Chester disease: a systematic review of case reports.
Skeletal radiologyFoamy Cell Angiosarcoma Resembling a Xanthomatous Histiocytic Infiltrate Without Evidence of Vascular Malignancy.
Journal of cutaneous pathologyAnxiety and depression in patients with histiocytic neoplasms and their associated clinical features.
Blood advancesAn Autopsied Case of Erdheim-Chester Disease with Severe Cardiovascular Involvement.
Internal medicine (Tokyo, Japan)Erdheim-Chester Disease: Expanding the Understanding of Cardiovascular Involvement.
Internal medicine (Tokyo, Japan)BRAF V600E mutation and high expression of PD-L1 in Rosai-Dorfman disease: case report and review of the literature.
Journal of hematopathologyNeuroimaging Spectrum of Erdheim-Chester Disease: An Image-Based Review.
AJNR. American journal of neuroradiologyPersonalized Medicine in Histiocytic Disorders: Novel Targets in Patients Without MAPK Alterations.
JCO precision oncologyIRF8 Demonstrates Positivity in a Significant Subset of Histiocytic and Dendritic Cell Neoplasms.
The American journal of surgical pathologyErdheim Chester disease presenting as bilateral breast dimpling and discoloration.
Radiology case reportsBeyond the surface: A comprehensive radiological review of primary retroperitoneal neoplasms.
Clinical imagingErdheim-Chester disease is often complicated by neurological disorders.
Neurologia i neurochirurgia polskaBreast Erdheim-Chester disease: an unusual presentation of a rare disorder.
QJM : monthly journal of the Association of PhysiciansClinical Images: A rare and misleading condition: isolated skeletal involvement of Erdheim-Chester disease.
Arthritis & rheumatology (Hoboken, N.J.)Case report: Tenosynovial giant cell tumor.
Frontiers in oncologyProgression of Arrhythmia in a Patient of Erdheim-Chester Disease After Interferon-α Withdrawal.
The Canadian journal of cardiologyXanthelasma and arginine vasopressin deficiency (central diabetes insipidus), think Erdheim Chester disease.
BMJ case reportsHistiocytic neoplasms: a brief review and differential diagnosis.
Journal of clinical and experimental hematopathology : JCEHCD68-Negative Histiocytoses with Cardiac Involvement, Associated with COVID-19.
International journal of molecular sciencesClinical Images: Erdheim-Chester disease presenting with palpitations and spondylopathy.
Arthritis & rheumatology (Hoboken, N.J.)Erdheim-Chester disease: An elusive diagnosis in a 50-year-old Ethiopian man presenting with diffuse sclerotic bone lesion.
Clinical case reportsA rare case of Erdheim Chester disease.
Radiology case reportsUtility of MR spectroscopy and MR perfusion in characterizing intracranial pathology in Erdheim-Chester disease: A case report.
Radiology case reportsCentral nervous system involvement in Erdheim-Chester disease: a magnetic resonance imaging study.
Clinical imagingErdheim-Chester disease in a patient with multiple myeloma.
BloodErdheim-Chester Disease Presenting as Bilateral Facial Masses: A case report and review of literature.
Sultan Qaboos University medical journalRosai-Dorfman disease presenting as a perirectal mass: A case report and review of diagnostic challenges.
Radiology case reportsErdheim-Chester disease: A case report emphasizing diagnostic challenges and differential diagnosis.
International journal of rheumatic diseasesErdheim-Chester Disease Masquerading as CLIPPERS.
Neurology(R) neuroimmunology & neuroinflammationThe utility of orbital imaging in the evaluation of orbital disease.
PloS oneCase Report: Periocular Steroid Injection Combined Vemurafenib Therapy in the Long-term Management of Orbital Involvement of Erdheim-Chester Disease.
Klinische Monatsblatter fur AugenheilkundeCirculating monocytes decrease significantly following disease-directed therapy and may reflect disease expansion in Langerhans Cell Histiocytosis.
Annals of hematologyErdheim-Chester disease: a rare renal phenotype and diagnostic conundrum.
Polish archives of internal medicineImaging in Erdheim-Chester Disease.
Radiographics : a review publication of the Radiological Society of North America, IncMechanism of neurodegeneration mediated by clonal inflammatory microglia.
bioRxiv : the preprint server for biologyRare severe constrictive pericarditis complication in Erdheim-Chester disease: A case report and literature review.
Journal of clinical and experimental hematopathology : JCEHMyocarditis in Erdheim-Chester disease.
Journal of medicine and lifeErdheim Chester disease confirmed by conjunctival biopsy.
Orbit (Amsterdam, Netherlands)An Unusual Case of Disseminated Erdheim-Chester Disease.
WMJ : official publication of the State Medical Society of Wisconsin[Erdheim-Chester disease with right atrial mass: a case report].
Zhonghua xin xue guan bing za zhiThe dark side of T2: central nervous system lesions with low signal intensity on T2-weighted imaging.
Radiologia brasileiraCurrent State of Targeted Therapy in Adult Langerhans Cell Histiocytosis and Erdheim-Chester Disease.
Targeted oncologyUnusual orbital, scleral and choroidal findings in Erdheim-Chester disease: a case report.
Orbit (Amsterdam, Netherlands)Atypical Bone Involvement in Erdheim-Chester Disease Showing No or Subtle Structure Changes and Increased Activity on FDG PET/CT.
Clinical nuclear medicineAdvancements in the understanding and management of histiocytic neoplasms.
Blood research[Erdheim-Chester disease manifesting as diabetes insipidus: a case report].
Zhonghua nei ke za zhiHistological evidence of MAPK pathway activation across subtypes of adult orbital xanthogranulomatous disease irrespective of the detection of oncogenic mutations.
Clinical immunology (Orlando, Fla.)Tumor-Agnostic Genomic and Clinical Analysis of BRAF Fusions Identifies Actionable Targets.
Clinical cancer research : an official journal of the American Association for Cancer ResearchOrbital histiocytosis; From A to Z.
International ophthalmologyA case of adult-onset Still disease with eyelid xanthogranuloma mimicking Erdheim-Chester disease.
Clinical and experimental dermatologyCo-occurrence of Erdheim-Chester disease and clonally evolving acute myeloid leukemia with FLT3-ITD and PTPN11 mutations.
Annals of hematologyAtypical case of Erdheim-Chester Disease involving bilateral orbits.
American journal of ophthalmology case reportsAssociações
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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.
- Multiple opportunistic infections revealing Erdheim-Chester disease: an atypical presentation.
- RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.
- A Rare Case of Pediatric BRAF V600E-Mutated Erdheim-Chester Disease With Isolated Central Nervous System Onset: Diagnosis, Treatment, and Efficacy Evaluation.
- Erdheim-Chester disease mimicking Wilms tumor in a child: a diagnostic challenge.
- Epidemiology of Erdheim-Chester disease in the United States: a SEER-based analysis.
- Case Report: Pediatric Erdheim-Chester disease with bilateral chorioretinal and central nervous system infiltration.
- Erdheim-Chester Disease: A Rare Presentation With Atrial Flutter and Severe Sinus Node Dysfunction.
- [Presence of IgG4-positive cells in Erdheim-Chester disease. Epiphenomenon or overlap?].
- Erdheim-Chester disease associated with myeloid neoplasm: Clinical features, molecular landscape, and treatment outcomes.
- Detection of BRAF V600E on the Re-evaluation in Erdheim-Chester Disease with Prior Negative Testing.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:35687(Orphanet)
- MONDO:0018153(MONDO)
- GARD:6369(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- 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
