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1. Full Text Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation
by Haroche, Julien and Cohen-Aubart, Fleur and Emile, Jean-François and Arnaud, Laurent and Maksud, Philippe and Charlotte, Frédéric and Cluzel, Philippe and Drier, Aurélie and Hervier, Baptiste and Benameur, Neïla and Besnard, Sophie and Donadieu, Jean and Amoura, Zahir
Blood, ISSN 0006-4971, 02/2013, Volume 121, Issue 9, pp. 1495 - 1500
Histiocytoses are rare disorders of unknown origin with highly heterogeneous prognosis. BRAF(V600E) gain-of-function mutations have been observed in 57% of... 
HEMATOLOGY | MELANOMA | Erdheim-Chester Disease - genetics | Glutamic Acid - genetics | Histiocytosis, Langerhans-Cell - genetics | Humans | Middle Aged | Male | Treatment Outcome | Drug Resistance - drug effects | Erdheim-Chester Disease - pathology | Drug Resistance - genetics | Erdheim-Chester Disease - drug therapy | Mutation, Missense - physiology | Histiocytosis, Langerhans-Cell - pathology | Sulfonamides - therapeutic use | Proto-Oncogene Proteins B-raf - genetics | Anti-Inflammatory Agents - therapeutic use | Adult | Female | Indoles - therapeutic use | Valine - genetics | Aged | Amino Acid Substitution | Histiocytosis, Langerhans-Cell - drug therapy
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2. Full Text Hematopoietic origin of Langerhans cell histiocytosis and Erdheim-Chester disease in adults
by Milne, Paul and Bigley, Venetia and Bacon, Chris M and Néel, Antoine and McGovern, Naomi and Bomken, Simon and Haniffa, Muzlifah and Diamond, Eli L and Durham, Benjamin H and Visser, Johannes and Hunt, David and Gunawardena, Harsha and Macheta, Mac and McClain, Kenneth L and Allen, Carl and Abdel-Wahab, Omar and Collin, Matthew
Blood, ISSN 0006-4971, 07/2017, Volume 130, Issue 2, pp. 167 - 175
Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) are rare histiocytic disorders induced by somatic mutation of MAPK pathway genes.... 
MANAGEMENT | DENDRITIC CELLS | NEOPLASMS | DISTINCT | MONOCYTES | SUBSETS | NOTCH | MUTATIONS | MATURATION | HEMATOLOGY | BLOOD | Antigens, CD - immunology | Dendritic Cells - immunology | Histiocytosis, Langerhans-Cell - diagnosis | Histiocytosis, Langerhans-Cell - genetics | Humans | Lectins, C-Type - immunology | Dendritic Cells - pathology | Hematopoietic Stem Cells - pathology | Erdheim-Chester Disease - immunology | Male | Receptors, Notch - genetics | Monocytes - immunology | Lectins, C-Type - genetics | Antigens, CD - genetics | Hematopoietic Stem Cells - immunology | Histiocytosis, Langerhans-Cell - pathology | Bone Marrow Cells - immunology | Monocytes - pathology | Adult | Female | Cell Differentiation | Foam Cells - pathology | Glycoproteins - genetics | Transforming Growth Factor beta - immunology | Antigens, CD1 - immunology | Diagnosis, Differential | Erdheim-Chester Disease - genetics | Gene Expression | Bone Marrow Cells - pathology | Immunophenotyping | Lipopolysaccharide Receptors - immunology | Histiocytosis, Langerhans-Cell - immunology | Erdheim-Chester Disease - pathology | Granulocyte-Macrophage Colony-Stimulating Factor - genetics | Glycoproteins - immunology | Granulocyte-Macrophage Colony-Stimulating Factor - immunology | Mannose-Binding Lectins - genetics | Mannose-Binding Lectins - immunology | Transforming Growth Factor beta - genetics | Proto-Oncogene Proteins B-raf - genetics | Proto-Oncogene Proteins B-raf - immunology | Alleles | Erdheim-Chester Disease - diagnosis | Lipopolysaccharide Receptors - genetics | Foam Cells - immunology | Antigens, CD1 - genetics | Mutation | Receptors, Notch - immunology | Myeloid Neoplasia
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3. Full Text Erdheim–Chester disease: A systematic review
by Cives, Mauro and Simone, Valeria and Rizzo, Francesca Maria and Dicuonzo, Franca and Cristallo Lacalamita, Marirosa and Ingravallo, Giuseppe and Silvestris, Franco and Dammacco, Franco
Critical Reviews in Oncology and Hematology, ISSN 1040-8428, 2015, Volume 95, Issue 1, pp. 1 - 11
Highlights • CNS involvement occurs in 56% of ECD patients. • Concomitant pituitary involvement, retro-orbital and axial lesions suggest ECD diagnosis. •... 
Hematology, Oncology and Palliative Medicine | Vemurafenib | BRAFV600E | CNS involvement | Histiocytosis | Erdheim–Chester disease | BRAF V600E | Erdheim-Chester disease | INVOLVEMENT | BRAF V600E MUTATION | BRAF(V600E) | IRRADIATION | ONCOLOGY | LANGERHANS CELL HISTIOCYTOSIS | PITUITARY | CENTRAL-NERVOUS-SYSTEM | SENESCENCE | LEUKEMIA | OF-THE-LITERATURE | HEMATOLOGY | MANIFESTATIONS | Bone and Bones - pathology | Erdheim-Chester Disease - genetics | Prognosis | Kidney - pathology | Humans | Central Nervous System - pathology | Male | Myocardium - pathology | Adrenal Cortex Hormones - therapeutic use | Erdheim-Chester Disease - pathology | Point Mutation | Erdheim-Chester Disease - drug therapy | Proto-Oncogene Proteins B-raf - genetics | Erdheim-Chester Disease - diagnosis | Adult
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4. Full Text A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease
by Mass, Elvira and Jacome-Galarza, Christian E and Blank, Thomas and Lazarov, Tomi and Durham, Benjamin H and Ozkaya, Neval and Pastore, Alessandro and Schwabenland, Marius and Chung, Young Rock and Rosenblum, Marc K and Prinz, Marco and Abdel-Wahab, Omar and Geissmann, Frederic
Nature, ISSN 0028-0836, 09/2017, Volume 549, Issue 7672, pp. 389 - 393
The pathophysiology of neurodegenerative diseases is poorly understood and there are few therapeutic options. Neurodegenerative diseases are characterized by... 
DENDRITIC CELLS | PATTERN | LANGERHANS CELL HISTIOCYTOSIS | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | KINASE | MICE | MODEL | ERDHEIM-CHESTER-DISEASE | EXPRESSION | Microglia - metabolism | Clone Cells - enzymology | Humans | Male | Myeloid Progenitor Cells - enzymology | Extracellular Signal-Regulated MAP Kinases - metabolism | MAP Kinase Signaling System | Erythroid Precursor Cells - enzymology | Histiocytosis - pathology | Microglia - pathology | Female | Proto-Oncogene Proteins B-raf - metabolism | Disease Models, Animal | Histiocytosis - enzymology | Myeloid Progenitor Cells - metabolism | Neurodegenerative Diseases - pathology | Macrophages - pathology | Microglia - enzymology | Neurodegenerative Diseases - genetics | Myeloid Progenitor Cells - pathology | Histiocytosis - metabolism | Neurodegenerative Diseases - metabolism | Clone Cells - metabolism | Macrophages - enzymology | Proto-Oncogene Proteins B-raf - antagonists & inhibitors | Erythroid Precursor Cells - pathology | Macrophages - metabolism | Animals | Clone Cells - pathology | Proto-Oncogene Proteins B-raf - genetics | Histiocytosis - genetics | Erythroid Precursor Cells - metabolism | Mosaicism | Mice | Mutation | Neurodegenerative Diseases - enzymology | Physiological aspects | Nervous system | Development and progression | Degeneration | Genetic aspects | Research | Histiocytosis | Mitogen-activated protein kinases | Intervention | Disease | Stem cell transplantation | Activation | Genomes | Kinases | Macrophages | Neuronal-glial interactions | Genotype & phenotype | Allografts | Neurodegeneration | Rodents | Bone marrow | Ataxia | Alzheimer's disease | Myeloid cells | Cytokines | Neurodegenerative diseases | Fetuses | Extracellular signal-regulated kinase | MAP kinase | Cell lineage | Gene expression | Patients | Amyloid precursor protein | Microglia | Organogenesis | Diseases | Neurological diseases | Gliosis | Stem cells | Neural stem cells
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5. Full Text The histopathology of Erdheim-Chester disease: A comprehensive review of a molecularly characterized cohort
by Ozkaya, Neval and Rosenblum, Marc K and Durham, Benjamin H and Pichardo, Janine D and Abdel-Wahab, Omar and Hameed, Meera R and Busam, Klaus J and Travis, William D and Diamond, Eli L and Dogan, Ahmet
Modern Pathology, ISSN 0893-3952, 04/2018, Volume 31, Issue 4, pp. 581 - 597
Erdheim-Chester disease is a rare, non-Langerhans cell histiocytosis histologically characterized by multi-systemic proliferation of mature histiocytes in a... 
KINASE ALTERATIONS | MUTATIONS | PATHOLOGY | Erdheim-Chester Disease - genetics | Humans | Erdheim-Chester Disease - pathology | Cohort Studies | Retroperitoneum | Oral cavity | Biopsy | Stroma | Bone marrow | Mutation | Histiocytosis | Heart diseases
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6. Full Text CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: A multicenter survival analysis of 53 patients
by Arnaud, Laurent and Hervier, Baptiste and Néel, Antoine and Hamidou, Mohamed A and Kahn, Jean-Emmanuel and Wechsler, Bertrand and Pérez-Pastor, Gemma and Blomberg, Bjørn and Fuzibet, Jean-Gabriel and Dubourguet, François and Marinho, António and Magnette, Catherine and Noel, Violaine and Pavic, Michel and Casper, Jochen and Beucher, Anne-Bérangère and Costedoat-Chalumeau, Nathalie and Aaron, Laurent and Salvatierra, Juan and Graux, Carlos and Cacoub, Patrice and Delcey, Véronique and Dechant, Claudia and Bindi, Pascal and Herbaut, Christiane and Graziani, Giorgio and Amoura, Zahir and Haroche, Julien
Blood, ISSN 0006-4971, 03/2011, Volume 117, Issue 10, pp. 2778 - 2782
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans histiocytosis, with noncodified therapeutic management and high mortality. No treatment has yet... 
MAGNETIC-RESONANCE | HEMATOLOGY | RECEPTOR | Prognosis | Follow-Up Studies | Humans | Middle Aged | Interferon-alpha - therapeutic use | Kaplan-Meier Estimate | Proportional Hazards Models | Male | Erdheim-Chester Disease - pathology | Young Adult | Erdheim-Chester Disease - drug therapy | Adolescent | Aged, 80 and over | Brain - pathology | Adult | Female | Aged | Erdheim-Chester Disease - mortality | Child | Cohort Studies | Immunologic Factors - therapeutic use
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7. Full Text Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation
by Hervier, Baptiste and Haroche, Julien and Arnaud, Laurent and Charlotte, Frédéric and Donadieu, Jean and Néel, Antoine and Lifermann, François and Villabona, Carles and Graffin, Bruno and Hermine, Olivier and Rigolet, Aude and Roubille, Camille and Hachulla, Eric and Carmoi, Thierry and Bézier, Maud and Meignin, Véronique and Conrad, Marie and Marie, Laurence and Kostrzewa, Elise and Michot, Jean-Marie and Barete, Stéphane and Taly, Valerie and Cury, Karine and Emile, Jean-François and Amoura, Zahir and French Histiocytoses Study Group
Blood, ISSN 0006-4971, 08/2014, Volume 124, Issue 7, pp. 1119 - 1126
Histiocytoses are a group of heterogeneous diseases that mostly comprise Langerhans cell histiocytosis (LCH) and non-LCH. The association of LCH with non-LCH... 
Erdheim-Chester Disease - genetics | Genetic Predisposition to Disease - genetics | Histiocytosis, Langerhans-Cell - genetics | Humans | Middle Aged | Kaplan-Meier Estimate | Child, Preschool | Male | Treatment Outcome | Mutation, Missense | Erdheim-Chester Disease - pathology | Young Adult | Erdheim-Chester Disease - drug therapy | Histiocytosis, Langerhans-Cell - pathology | DNA Mutational Analysis | Proto-Oncogene Proteins B-raf - genetics | Adolescent | Adult | Female | Aged | Child | Histiocytosis, Langerhans-Cell - drug therapy | Life Sciences
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8. Neoplastic Pericardial Disease
by Maleszewski, Joseph J and Anavekar, Nandan S
Cardiology Clinics, ISSN 0733-8651, 11/2017, Volume 35, Issue 4, pp. 589 - 600
Pericardial tumors are rare lesions that include a range of neoplastic conditions that may arise within the pericardium or metastasize to involve it... 
Masses | Epicardium | Thoracic | Cardiac | Tumors | IGG4-RELATED DISEASE | CARDIAC & CARDIOVASCULAR SYSTEMS | CARDIAC ANGIOSARCOMA | IMAGING FINDINGS | RADIOLOGIC-PATHOLOGICAL CORRELATION | ERDHEIM-CHESTER DISEASE | MAGNETIC-RESONANCE | EPICARDIAL LIPOMA | OF-THE-LITERATURE | CONSTRICTIVE PERICARDITIS | Heart Neoplasms - pathology | Hemangioma - pathology | Mesothelioma - pathology | Hemangioma - diagnostic imaging | Humans | Heart Neoplasms - diagnostic imaging | Tomography, X-Ray Computed | Carcinoma - diagnostic imaging | Erdheim-Chester Disease - therapy | Mediastinal Cyst - therapy | Pericardium - diagnostic imaging | Lipoma - therapy | Hemangiosarcoma - therapy | Mesothelioma - therapy | Echocardiography | Paraganglioma - therapy | Lung Neoplasms - therapy | Sarcoma - pathology | Erdheim-Chester Disease - pathology | Magnetic Resonance Imaging | Mesothelioma - diagnostic imaging | Mediastinal Cyst - pathology | Lung Neoplasms - diagnostic imaging | Sarcoma - diagnostic imaging | Hemangiosarcoma - diagnostic imaging | Neoplasms, Germ Cell and Embryonal - therapy | Erdheim-Chester Disease - diagnostic imaging | Lymphoma - diagnostic imaging | Immunoglobulin G | Lung Neoplasms - pathology | Lipoma - pathology | Sarcoma - therapy | Hemangioma - therapy | Lymphoma - therapy | Pericardium - pathology | Lymphoma - pathology | Mediastinal Cyst - diagnostic imaging | Carcinoma - secondary | Sarcoma, Synovial - diagnostic imaging | Hemangiosarcoma - pathology | Paraganglioma - pathology | Sarcoma, Synovial - therapy | Heart Neoplasms - therapy | Neoplasms, Germ Cell and Embryonal - diagnostic imaging | Paraganglioma - diagnostic imaging | Breast Neoplasms - pathology | Heart Neoplasms - secondary | Autoimmune Diseases | Carcinoma - therapy | Lipoma - diagnostic imaging | Radiography, Thoracic | Sarcoma, Synovial - pathology | Neoplasms, Germ Cell and Embryonal - pathology
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9. Full Text Functional evidence for derivation of systemic histiocytic neoplasms from hematopoietic stem/progenitor cells
by Durham, Benjamin H and Roos-Weil, Damien and Baillou, Claude and Cohen-Aubart, Fleur and Yoshimi, Akihide and Miyara, Makoto and Papo, Matthias and Hélias-Rodzewicz, Zofia and Terrones, Nathalie and Ozkaya, Neval and Dogan, Ahmet and Rampal, Raajit and Urbain, Fanny and Fèvre, Lucie Le and Diamond, Eli L and Park, Christopher Y and Papo, Thomas and Charlotte, Frédéric and Gorochov, Guy and Taly, Valérie and Bernard, Olivier A and Amoura, Zahir and Abdel-Wahab, Omar and Lemoine, François M and Haroche, Julien and Emile, Jean-François
Blood, ISSN 0006-4971, 07/2017, Volume 130, Issue 2, pp. 176 - 180
Langerhans cell histiocytosis (LCH) and the non-LCH neoplasm Erdheim-Chester disease (ECD) are heterogeneous neoplastic disorders marked by infiltration of... 
PATHOGENESIS | ERDHEIM-CHESTER DISEASE | MAP2K1 | ACTIVATION | DENDRITIC CELLS | EFFICACY | MUTATIONS | HEMATOLOGY | HIGH PREVALENCE | EXPRESSION | VEMURAFENIB | Dendritic Cells - immunology | Histiocytosis, Langerhans-Cell - genetics | Humans | Dendritic Cells - pathology | Hematopoietic Stem Cells - pathology | Erdheim-Chester Disease - immunology | Transplantation, Heterologous | Monocytes - immunology | Hematopoietic Stem Cells - immunology | Antigens, CD34 - immunology | Histiocytosis, Langerhans-Cell - pathology | Bone Marrow Cells - immunology | Bone Marrow Transplantation | Monocytes - pathology | Proto-Oncogene Proteins - immunology | Adult | Cell Differentiation | Macrophages - immunology | Erdheim-Chester Disease - genetics | Gene Expression | DNA-Binding Proteins - immunology | Macrophages - pathology | Bone Marrow Cells - pathology | Immunophenotyping | Proto-Oncogene Proteins - genetics | DNA-Binding Proteins - genetics | Histiocytosis, Langerhans-Cell - immunology | Erdheim-Chester Disease - pathology | Animals | Proto-Oncogene Proteins B-raf - genetics | Proto-Oncogene Proteins B-raf - immunology | Alleles | Mice | Mutation | Antigens, CD34 - genetics | Life Sciences | Biochemistry, Molecular Biology | Cancer | Brief Report | Myeloid Neoplasia
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10. Full Text Distinctive pulmonary histopathology with increased IgG4-positive plasma cells in patients with autoimmune pancreatitis: Report of 6 and 12 cases with similar histopathology
by Shrestha, Bijayee and Sekiguchi, Hiroshi and Colby, Thomas V and Graziano, Paolo and Aubry, Marie-Christine and Smyrk, Thomas C and Feldman, Andrew L and Cornell, Lynn D and Ryu, Jay H and Chari, Suresh T and Dueck, Amylou C and Yi, Eunhee S
American Journal of Surgical Pathology, ISSN 0147-5185, 10/2009, Volume 33, Issue 10, pp. 1450 - 1462
Autoimmune pancreatitis (AP) is one manifestation of a systemic, steroid-responsive disease with elevated serum IgG4 and characteristic histopathology,... 
Rosai-Dorfman disease | Inflammatory and interstitial lung disease | IgG4 | Erdheim-Chester disease | Autoimmune pancreatitis | Sjögren syndrome | Inflammatory myofibroblastic tumor | FIBROSIS | SURGERY | LUNG | inflammatory and interstitial lung disease | inflammatory myofibroblastic tumor | INVOLVEMENT | INTERSTITIAL PNEUMONIA | autoimmune pancreatitis | PATHOLOGY | CLINICOPATHOLOGICAL ENTITY | INFILTRATION | INFLAMMATORY PSEUDOTUMORS | IGG4-RELATED SCLEROSING DISEASE | SERUM IGG4 LEVEL | Sjogren syndrome | ORGANIZING PNEUMONIA | Histiocytosis, Sinus - pathology | Immunohistochemistry | Lung Diseases, Interstitial - etiology | Immunoglobulin G - blood | Lung Diseases, Interstitial - pathology | Humans | Middle Aged | Autoimmune Diseases - complications | Autoimmune Diseases - immunology | Male | Pancreatitis - complications | Lung Diseases, Interstitial - immunology | Histiocytosis, Sinus - immunology | Immunoglobulin G - immunology | Aged, 80 and over | Pancreatitis - immunology | Female | Pancreatitis - pathology | Aged | Autoimmune Diseases - pathology | Plasma Cells - immunology
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11. Full Text Histiocytic disorders of the gastrointestinal tract
by Detlefsen, Sönke, MD, PhD and Fagerberg, Christina R., MD and Ousager, Lilian B., MD, PhD and Lindebjerg, Jan, MD and Marcussen, Niels, MD, DrMedSc and Nathan, Torben, MD and Sørensen, Flemming B., MD, DrMedSc
Human Pathology, ISSN 0046-8177, 2013, Volume 44, Issue 5, pp. 683 - 696
Summary The morphologic diagnosis of histiocytic lesions of the gastrointestinal tract can be challenging, and several disorders have to be considered in their... 
Pathology | Xanthomatosis | Xanthogranulomatous inflammation | Langerhans cell histiocytosis | Malacoplakia | Melanosis coli | Rosai-Dorfman disease | Erdheim-Chester disease | Whipple disease | ROSAI-DORFMAN-DISEASE | MASSIVE LYMPHADENOPATHY | PATHOLOGY | HERMANSKY-PUDLAK-SYNDROME | SINUS HISTIOCYTOSIS | PARAFFIN-EMBEDDED TISSUE | ERDHEIM-CHESTER-DISEASE | OF-THE-LITERATURE | MELANOSIS-COLI | Histiocytosis, Sinus - pathology | Immunohistochemistry | Malacoplakia - pathology | Diagnosis, Differential | Humans | Child, Preschool | Histiocytes - pathology | Male | Xanthomatosis - complications | Xanthogranuloma, Juvenile - pathology | Erdheim-Chester Disease - pathology | Gastrointestinal Tract - pathology | Lysosomal Storage Diseases - pathology | Xanthomatosis - pathology | Young Adult | Histiocytosis, Langerhans-Cell - pathology | Gastrointestinal Diseases - pathology | Histiocytosis - pathology | Whipple Disease - pathology | Adult | Tangier Disease - pathology | Gastrointestinal system | Proteins | Postoperative period | Disease | Antibiotics | Lipids | Growth hormones | Chromosomes | Age | Cholesterol
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12. Full Text Erdheim–Chester disease
by Haroche, Julien and Arnaud, Laurent and Amoura, Zahir
Current Opinion in Rheumatology, ISSN 1040-8711, 01/2012, Volume 24, Issue 1, pp. 53 - 59
PURPOSE OF REVIEWErdheim–Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis first described in 1930 with a wide range of manifestations. The... 
cytokine | DIAGNOSIS | IMAGING FINDINGS | ORBITAL INVOLVEMENT | RHEUMATOLOGY | histiocytosis | CHEMOTHERAPY | TRANSPLANTATION | INTERFERON-ALPHA | Langerhans-cell histiocytosis | Erdheim-Chester disease | interferon alpha | OF-THE-LITERATURE | IMATINIB MESYLATE | MANIFESTATIONS | Radiography | Erdheim-Chester Disease - drug therapy | Erdheim-Chester Disease - diagnostic imaging | Prognosis | Humans | Interferon-alpha - therapeutic use | Erdheim-Chester Disease - pathology | Histiocytosis | Cytokine | Interferon alpha
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13. Full Text CNS Erdheim–Chester Disease: A Challenge to Diagnose
by Pan, Zenggang and Kleinschmidt-DeMasters, Bette K
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 12/2017, Volume 76, Issue 12, pp. 986 - 996
Abstract Erdheim–Chester disease (ECD) is a rare nonLangerhans cell histiocytosis. Although approximately 50% of cases eventually involve the central nervous... 
Erdheim-Chester disease | NonLangerhans cell histiocytosis | Langerhans cell histiocytosis | Central nervous system | Rosai-Dorfman disease | MANIFESTATION | EFFICACY | BRAF V600E MUTATION | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | THERAPY | VEMURAFENIB | Histiocytosis, Non-Langerhans-Cell - pathology | Diagnosis, Differential | Erdheim-Chester Disease - diagnostic imaging | Humans | Middle Aged | Fatal Outcome | Histiocytosis, Non-Langerhans-Cell - diagnostic imaging | Female | Male | Aged | Erdheim-Chester Disease - pathology | Biopsy
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