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Chester Erdheim disease

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https://www.readbyqxmd.com/read/28214412/histiocytoses-emerging-neoplasia-behind-inflammation
#1
REVIEW
Julien Haroche, Fleur Cohen-Aubart, Barret J Rollins, Jean Donadieu, Frédéric Charlotte, Ahmed Idbaih, Augusto Vaglio, Omar Abdel-Wahab, Jean-François Emile, Zahir Amoura
Histiocytoses are disorders characterised by inflammation and the accumulation of cells derived from the monocyte and macrophage lineages, which results in tissue damage. Although they are often considered rare disorders with protean clinical manifestations, considerable advances in the understanding of their genetics have led to increased clinical recognition of these conditions, and fuelled further insights into their pathogenesis. In this Review, we describe insights into the cells of origin, molecular pathology, clinical features, and treatment strategies for some of the most common histiocytic disorders, including Langerhans cell histiocytosis, Erdheim-Chester disease, and Rosai-Dorfman disease...
February 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28194436/real-time-genomic-profiling-of-histiocytoses-identifies-early-kinase-domain-braf-alterations-while-improving-treatment-outcomes
#2
Lynn H Lee, Anjelika Gasilina, Jayeeta Roychoudhury, Jason Clark, Francis X McCormack, Joseph Pressey, Michael S Grimley, Robert Lorsbach, Siraj Ali, Mark Bailey, Philip Stephens, Jeffrey S Ross, Vincent A Miller, Nicolas N Nassar, Ashish R Kumar
Many patients with histiocytic disorders such as Langerhans cell histiocytosis (LCH) or Erdheim-Chester disease (ECD) have treatment-refractory disease or suffer recurrences. Recent findings of gene mutations in histiocytoses have generated options for targeted therapies. We sought to determine the utility of prospective sequencing of select genes to further characterize mutations and identify targeted therapies for patients with histiocytoses. Biopsies of 72 patients with a variety of histiocytoses underwent comprehensive genomic profiling with targeted DNA and RNA sequencing...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28182116/effective-braf-inhibitor-vemurafenib-therapy-in-a-2-year-old-patient-with-sequentially-diagnosed-langerhans-cell-histiocytosis-and-erdheim-chester-disease
#3
Zsófia Váradi, Rita Bánusz, Judit Csomor, Krisztián Kállay, Edit Varga, Gabriella Kertész, Monika Csóka
Erdheim-Chester disease (ECD) is a rare histiocytic disorder, characterized by the xanthomatous infiltration of tissues by CD68-positive and CD1a-/CD100-negative foamy histiocytes. In childhood, ECD is exceptionally rare, and only a dozen cases have been published so far. The cooccurence of Langerhans cell histiocytosis (LCH) and ECD is even rarer. Here, we report a 2-year-old boy, the youngest patient in the literature so far, who was diagnosed with concomitant BRAF mutation-positive LCH and ECD. In his case, conventional LCH treatment proved to be ineffective, but he is the youngest patient who was successfully treated with the BRAF inhibitor vemurafenib...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28153505/three-cases-of-erdheim-chester-disease-with-intraocular-manifestations-imaging-and-histopathology-findings-of-a-rare-entity
#4
Anna C S Tan, Suzanne Yzer, Neal Atebara, Brian P Marr, Robert M Verdijk, Virgil A S H Dalm, K Bailey Freund, Lawrence Yannuzzi, Tom Missotten
PURPOSE: To report intraocular manifestations of ECD with multimodal imaging. DESIGN: A retrospective observational case series. METHODS: This was a multi-center case series of three patients with confirmed tissue diagnosis of ECD that showed intraocular manifestations and were imaged at baseline and follow-up visits. RESULTS: Intraocular manifestations are rarely observed in association with Erdheim-Chester disease (ECD)...
January 30, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28151461/a-rare-case-of-erdheim-chester-disease-in-the-breast
#5
Razan F Binyousef, Aboelkhair M Al-Gahmi, Zahid Rahman Khan, Elham Rawah
No abstract text is available yet for this article.
January 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/28149747/an-unusual-thoracic-localizations-of-erdheim-chester-disease-a-case-report
#6
C Massaccesi, S Colella, F Fioretti, V D'Emilio, G Panella, G Primomo, F Barbisan, R Pela, V Poletti
Erdheim- Chester disease is a rare non- Langerhans cell histiocytosis that usually involves the bones, heart, central nervous system, retroperitoneum, eyes, kidneys, skin and adrenals. Lungs are affected in up to one-half cases; at CT scan various patterns are described: interstitial disease, consolidations, micronodules and microcysts, with or without pleural involvement. We presented a case of a 59 year-old man with unusual intrathoracic manifestation of Erdheim- Chester disease. Singularities of our report are the lonely thoracic involvement at the onset of the disease and a histiocytic lesion in the posterior mediastinum...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28099231/vemurafenib-braf-inhibitor-therapy-for-orbital-erdheim-chester-disease
#7
Adit Gupta, Amir Yeganeh, Daniel Rootman, Robert Goldberg
Erdheim-Chester disease is a rare xanthogranulomatous systemic disease, which involves the orbit in some cases. Through this case report, the authors review the treatment modalities used in orbital Erdheim-Chester disease and explore a newer modality of treatment. Cases of orbital Erdheim-Chester disease were identified in the literature utilizing a PubMed search and all the treatment modalities were reviewed. The response to treatment of orbital Erdheim-Chester disease has been poor with the various medical and surgical treatment modalities used in the past...
January 17, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28095017/spectrum-of-xanthogranulomatous-processes-in-the-abdomen-and-pelvis-a-pictorial-review-of-infectious-inflammatory-and-proliferative-responses
#8
Kelsey S Bourm, Christine O Menias, Kamran Ali, Kinan Alhalabi, Khaled M Elsayes
OBJECTIVE: Xanthogranulomatous (XG) processes are rare inflammatory conditions with the characteristic pathologic feature of lipid-laden macrophages or histiocyte cells. Imaging findings are nonspecific and can simulate aggressive neoplastic processes. XG processes can be caused by infection, inflammation, histolytic process, or an inherited lysosomal disorder. XG infectious processes are mainly seen in cholecystitis and pyelonephritis, but several other organs can also be involved. Histiocytic processes can be divided into Langerhans and non-Langerhans cell histiocytosis...
January 17, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28080175/combination-of-adalimumab-with-lower-dose-of-methylprednisolone-in-erdheim-chester-disease-with-systemic-involvement
#9
Xin Jia, Xiaoxuan Ning, Qingxian Bai, Nan Leng, Shengjun Wang, Xiaoming Wang, Shoujing Yang
No abstract text is available yet for this article.
January 12, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/28078666/pediatric-erdheim-chester-disease-with-aggressive-skin-manifestations
#10
H-H Su, W Wu, Y Guo, H-D Chen, S-J Shan
Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell histiocytosis, is uncommon and characterized by the accumulation of CD68+/CD1a- foamy histiocytes. It is extremely rare in children. The skin lesions of pediatric ECD was not systemically described before. We report a case of ECD in a 3.5 year old Chinese boy. The patient present with generalized skin and bone involvement for 3 years duration. Marked generalized annular maculopapular lesions with central atrophy which differed from previously reported adult xanthoma-like papules or periorbital xanthelasma-like lesions...
January 12, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28051224/erdheim-chester-disease-and-radiobiphosphonates-bone-scan-from-a-simple-peripheral-form-to-a-rare-axial-location-a-case-report
#11
Salah Oueriagli Nabih
The Erdheim-Chester disease is a rare form of non Langherans histiocytosis. It can be expressed by a multi systemic disease interesting: bone, lung, heart, brain, retro peritoneum, skin and retro-orbital tissue. The diagnosis is established under the radiological aspect, bone scan uptake and immunohistological profile. The bone lesions are almost constant and rather characteristic of bone scintigraphy. We related the case of a young female patient of 26 years old with Erdheim-Chester bone disease. Diagnosis was revealed by diabetes insipidus (nerve damage) and diffuses bones pain...
June 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/27995058/erdheim-chester-disease-moving-away-from-the-orphan-diseases-a-case-report
#12
Jessica M Stempel, Jean G Bustamante Alvarez, Andres Mora Carpio, Varun Mittal, Claudia Dourado
With approximately 750 cases reported, Erdheim-Chester disease is an exceedingly rare histiocyte cell disorder. Affected sites typically include long bones, large vessels and central nervous system. However, cutaneous and pulmonary involvement can also occur. The diagnosis is ascertained by identification of foamy histiocytes positive for CD68, CD163, and factor XIIIa on immunoperoxidase staining. Recently published literature have described an association between Erdheim-Chester disease and BRAF V600E mutation...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/27940476/trametinib-following-disease-reactivation-under-dabrafenib-in-erdheim-chester-disease-with-both-braf-and-kras-mutations
#13
Thierry M Nordmann, Freimut D Juengling, Mike Recher, Christoph T Berger, Daniel Kalbermatten, Andreas Wicki, Aino Paasinen-Sohns, Gieri Cathomas, Alexandar Tzankov, Thomas Daikeler
Major advances have been made in understanding the pathogenesis of Erdheim-Chester disease (ECD) leading to novel treatment strategies. Targeted therapies such as BRAF inhibition have shown a significant impact on disease management, emphasizing the importance of the activated mitogen-associated protein kinase (MAPK) pathway in this disease. However, incomplete responsiveness, potentially limiting side effects and the occurrence of treatment resistance to BRAF inhibition observed in other BRAF mutant malignancies imply the importance of therapeutic strategies beyond BRAF inhibition...
December 9, 2016: Blood
https://www.readbyqxmd.com/read/27900869/-evaluation-of-five-years-of-treatment-of-erdheim-chester-disease-with-anakinra-case-report-and-overview-of-literature
#14
Zdeněk Adam, Hana Petrášová, Zdeněk Řehák, Renata Koukalová, Marta Krejčí, Luděk Pour, Eva Vetešníková, Aleš Čermák, Sabina Ševčíková, Petr Szturz, Zdeněk Král, Jiří Mayer
: Erdheim-Chester disease is a histiocytic neoplasm of diseases from the group of non-Langerhans-cell histiocytoses, formed by infiltrates of foamy histiocytes. These pathological histiocytes produce pro-inflammatory cytokines. Therefore Erdheim-Chester disease is called inflammatory histiocytary neoplasm. The disease is accompanied by clinical symptoms of systemic inflammatory response, i.e. B symptoms. Imaging examinations detect typical osteosclerotic changes affecting diaphyses and metaphyses of the lower long bones and fibrotic changes which affect the aorta wall and the vessels leading from it...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27898473/histopathological-and-clinical-findings-in-cutaneous-manifestation-of-erdheim-chester-disease-and-langerhans-cell-histiocytosis-overlap-syndrome-associated-with-the-brafv600e-mutation
#15
Julia Liersch, J Andrew Carlson, Jörg Schaller
The overlap of Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) is more common than it was generally accepted. Both diseases seem to be linked by a mutation in oncogenic BRAFV600E, probably an early event which occurs in bone marrow progenitor cells. In this article are described the clinical and histological findings in 2 cases of ECD-LCH overlap syndrome bearing the BRAFV600E mutation in both ECD and LCH lesions in bone and skin. In one case, lesions of ECD and LCH were situated directly site-to-site in the same bone section leading to the assumption of a common myeloid precursor cell for these diseases...
November 23, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27889325/-langerhans-cell-histiocytosis-and-erdheim-chester-disease-a-continuity
#16
S Parreau, J Haroche, I Pommepuy, J F Emile, J C Bourras, F Archambeaud
INTRODUCTION: Erdheim-Chester disease and langerhans cell histiocytosis are two rare diseases separate on clinical, radiological and histological aspects. However, several cases involving both entities have been described. OBSERVATION: A 70-year-old man had a central diabetes insipidus, xanthelasmas, retroperitoneal fibrosis and osteosclerosis of the legs suggestive of Erdheim-Chester disease. Bone biopsy showed langerhans cell histiocytosis CD1a positive with the presence of BRAF V600E mutation...
November 23, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27863426/quantification-of-tumor-derived-cell-free-dna-cfdna-by-digital-pcr-digpcr-in-cerebrospinal-fluid-of-patients-with-brafv600-mutated-malignancies
#17
Parisa Momtaz, Elena Pentsova, Omar Abdel-Wahab, Eli Diamond, David Hyman, Taha Merghoub, Daoqi You, Billel Gasmi, Agnes Viale, Paul B Chapman
Tumor-derived cell free DNA (cfDNA) can be detected in plasma. We hypothesized that mutated BRAF V600 cfDNA could be quantified in the cerebrospinal fluid (CSF) of patients with central nervous system (CNS) metastases. We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both. Tumor-derived cfDNA was quantified by digital PCR in the CSF of 6/11 patients (range from 0...
November 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27861332/systemic-vasculitis-associated-with-vemurafenib-treatment-case-report-and-literature-review
#18
Adrien Mirouse, Léa Savey, Fanny Domont, Cloé Comarmond, Stéphane Barete, Emmanuelle Plaisier, Philippe Rouvier, Patrice Cacoub, David Saadoun
RATIONALE: Vemurafenib, an inhibitor of mutated B-rapidly accelerated fibrosarcoma, is frequently used in the treatment of melanoma and Erdheim-Chester disease (ECD) patients. Inflammatory adverse effects have been increasingly reported after vemurafenib treatment. PATIENT CONCERNS AND DIAGNOSE: We report 6 cases of vemurafenib-associated vasculitis, of whom a personal case of a 75-year-old man with history of ECD who developed purpura and rapidly progressive pauci-immune glomerulonephritis during treatment with vemurafenib...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27833932/targeted-treatment-of-brainstem-neurohistiocytosis-guided-by-urinary-cell-free-dna
#19
David Hunt, Paul Milne, Peter Fernandes, Venetia Bigley, Matthew Collin
OBJECTIVE: To identify a treatment-responsive BRAF(V600E) mutation in brainstem neurohistiocytosis, where no lesional tissue was readily obtainable, using a cell-free DNA approach. METHODS: Cell-free DNA was extracted from urine and allele-specific PCR for the BRAF(V600E) mutation was performed. Response to conventional treatment (corticosteroids and interferon) and targeted treatment with a BRAF inhibitor was assessed by clinical evaluation, gadolinium-enhanced MRI brain scan, and serial testing of urinary cell-free DNA for mutant alleles...
January 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27793652/erdheim-chester-disease-presenting-as-a-solid-renal-mass
#20
Matthew B Clements, Jacques Farhi, Noah S Schenkman
Erdheim-Chester disease is a rare, systemic histiocytic disorder, usually presenting due to bone manifestations. The most commonly seen urologic manifestation is retroperitoneal fibrosis, leading to ureteral obstruction. We describe a patient with a solid right renal mass, initially concerning for renal cell carcinoma, in addition to diffuse retroperitoneal fibrosis and a chronically obstructed left kidney. The renal mass and retroperitoneal fibrosis are thought to be caused by Erdheim-Chester disease based on imaging findings and biopsy results...
October 25, 2016: Urology
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