keyword
MENU ▼
Read by QxMD icon Read
search

Erdheim chester

keyword
https://www.readbyqxmd.com/read/29025773/erdheim-chester-disease-atypical-presentation-of-a-rare-disease
#1
Cristian Ricardo Calandra, Ariel Bustos, Florencia Falcon, Naomi Arakaki
We report the clinical case of an adult patient referred to our hospital because of trismus due to a tumour in the right infratemporal and pterygomaxillary fossa. He referred hyporexia, weight loss and right trigeminal neuralgia. On physical examination, he had trismus and diplopia. On neuroimaging, the tumour invaded the central nervous system affecting the right temporal lobe and orbit, and the sellar region. Tumour biopsy revealed foamy histiocytes and isolated giant multinuclear cells immunoreactive to CD68 and negative to CD1a and S100...
October 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28912295/erdheim-chester-disease-the-targeted-revolution
#2
Augusto Vaglio, Eli L Diamond
No abstract text is available yet for this article.
September 14, 2017: Blood
https://www.readbyqxmd.com/read/28868020/erdheim-chester-disease-the-importance-of-information-integration
#3
Anna Nikonova, Khashayar Esfahani, Guillaume Chausse, Stephan Probst, Tina Petrogiannis-Haliotis, Hans Knecht, Genevieve Gyger
BACKGROUND: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis disorder that utilizes the RAS-RAF-MEK-ERK pathway. It has a highly variable clinical presentation, where virtually any organ can be involved, thus having the potential of posing a great diagnostic challenge. Over half of the reported cases have the BRAF V600E mutation and have shown a remarkable response to vemurafenib. CASE PRESENTATION: We describe herein a patient with a history of stroke-like symptoms and retroperitoneal fibrosis that on initial pathology raised the possibility of IgG4-related disease...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28834636/intraosseous-rosai-dorfman-disease-diagnosed-by-touch-imprint-cytology-evaluation-a-case-series
#4
Avani A Pendse, Sara E Wobker, Kevin G Greene, Scott V Smith, Robert J Esther, Leslie G Dodd
Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease (RDD) is a rare benign disorder that primarily affects the lymph nodes. Localized lymphadenopathy is the most common clinical manifestation of this disorder. However, RDD has been described in several extra-nodal sites including the head and neck region, soft tissue, skin, upper respiratory tract, gastro-intestinal tract and central nervous system (CNS). Involvement of the bone is considered very rare, occurring in less than 10% patients...
August 23, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28825890/case-245-erdheim-chester-disease
#5
Mark D Mamlouk, Mariam S Aboian, Christine M Glastonbury
History A 53-year-old man experienced headache and double vision that progressed over 1 year. After a traumatic fall, he was hospitalized, and proptosis was identified at physical examination. Laboratory tests were remarkable for leukocytosis. Hematocrit level, thyroid stimulating hormone level, autoimmune antibody level, erythrocyte sedimentation rate, and C-reactive protein level were normal. Computed tomography (CT) of the head revealed bilateral intraconal masses, for which magnetic resonance (MR) imaging of the orbits was subsequently performed ( Fig 1 )...
September 2017: Radiology
https://www.readbyqxmd.com/read/28810314/-clinical-and-pathological-characteristics-of-erdheim-chester-disease-involving-the-lungs
#6
T Lu, S Wang, H Huang, T Wang, M Wang, D R Zhong, R E Feng
Objective: To explore the clinical manifestations, pathological features, differential diagnosis and gene mutation status in patients with pulmonary involvement of Erdheim-Chester disease (ECD). Methods: The clinical data of 4 cases of Erdheim-Chester disease admitted to Peking Union Medical College Hospital from October 2014 to August 2016 were examined for imaging, microscopic and immunohistochemitry findings, and BRAFV600E mutation. The related literatures were reviewed. Results: Among the 4 cases, there were 3 males and 1 female, aging from 7 to 47 years, and the average age was 34...
August 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28798943/a-fatal-case-of-erdheim-chester-disease-with-hepatic-involvement
#7
Gokulakrishnan Balasubramanian, Alexandra Modiri, Marina Affi, Catherine E Hagen, Bjorn Batdorf, Kiyoko Oshima, Laura Michaelis, Kia Saeian
Erdheim-Chester disease (ECD) is a rare form of systemic histiocytosis, typically presenting with striking osseous involvement characterized by bilateral osteosclerosis and involvement of organs such as the lung, pituitary gland, heart, and brain. Liver involvement with ECD is extremely uncommon. We report a 56-year-old woman presenting with newly diagnosed cirrhosis and signs concerning for intra-abdominal malignancy, including omental caking and peritoneal thickening. Liver biopsy demonstrated xanthogranulomatous infiltration from ECD...
2017: ACG Case Reports Journal
https://www.readbyqxmd.com/read/28739622/an-unusual-case-of-interstitial-lung-disease-in-a-patient-with-cardiopulmonary-syndrome-as-the-initial-presentation-of-erdheim-chester-disease
#8
Domingo Franco-Palacios, April McDonald, R Neal Aguillard, Allen Berry
Erdheim-Chester disease (ECD) is a very rare disorder with only approximately 600 cases reported in the literature. ECD has been recently reclassified as a histiocytic dendritic cell neoplasm. The clinical spectrum ranges from asymptomatic tissue accumulation of histiocytes to invasive tissue infiltration, which can cause fulminant multisystem failure. It typically presents with bone pain and constitutional symptoms. Extraosseous manifestations are not uncommon. ECD-associated interstitial lung disease has been described in 20%-35% of patients...
July 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28722363/-erdheim-chester-disease-a-differential-diagnosis-of-retroperitoneal-fibrosis
#9
Raphaël André, Jörg D Seebach
Erdheim-Chester disease is a rare multisystemic non-Langerhans histiocytosis with about 500 reported cases. Typical features include retroperitoneal and perirenal fibrosis (hairy kidney), periaortitis with a coated aorta, osteosclerosis of the lower limbs, and sometimes exophthalmia or diabetes insipidus. Histology is the cornerstone for diagnosis showing an infiltrate with foamy histiocytes and occasional multinucleated giant cells (Touton cells). There is no standard treatment regimen, current options include corticosteroids, interferon alpha, systemic chemotherapy, and radiation therapy ; however, a better understanding of the pathophysiological mechanisms has allowed the emergence of novel targeted treatments such as vemurafenib, imatinib, and anakinra...
April 5, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28695297/histiocytic-and-dendritic-cell-neoplasms-what-have-we-learnt-by-studying-67-cases
#10
Fabio Facchetti, Stefano Aldo Pileri, Luisa Lorenzi, Valentina Tabanelli, Lisa Rimsza, Stefania Pittaluga, Stephan Dirnhofer, Christiane Copie-Bergman, Laurence de Leval, Andreas Rosenwald, Andrew Wotherspoon, Falko Fend
Tumors derived from histiocytic and dendritic cells encompass a large and heterogeneous group of neoplastic and reactive conditions, and their diagnosis is challenging both for pathologists and clinicians. Diagnosis is based on morphological and phenotypical findings, but hybrid features are not uncommon. Furthermore, recent studies uncovered the molecular mechanisms driving some of these tumors, improving diagnostic adequacy, and providing the basis for effective therapeutic breakthroughs.Sixty-seven cases were submitted to the accessory cell and histiocytic neoplasms session at the European Association of Haematopathology/Society for Hematopathology workshop 2016 held in Basel, Switzerland...
July 10, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28690524/erdheim-chester-disease-case-report-with-aggressive-multisystem-manifestations-and-review-of-the-literature
#11
Sultan Alotaibi, Osama Alhafi, Hatem Nasr, Khalid Eltayeb, Ghaleb Elyamany
Erdheim-Chester disease (ECD) is an extremely rare and aggressive form of non-Langerhans cell histiocytosis. ECD usually presents with bone pain in adults aged 40-60. Its etiology is unknown but it is thought to be either a reactive or neoplastic disorder. Recently, mutation of the proto-oncogene BRAF (BRAFV600E) has been found in more than 50% of cases. The multisystemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. The common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, retroperitoneum, and skin...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28685649/misdiagnosis-cns-erdheim-chester-disease-mimicking-clippers
#12
Jillian Berkman, Caleb Ford, Emily Johnson, Beth A Malow, Joseph M Aulino
Introduction Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory central nervous system (CNS) disorder with particular involvement of the pons. Diagnostic criteria include a range of clinical symptoms related to the underlying brainstem pathology, visible with magnetic resonance imaging (MRI). MRI findings include the appearance of punctuate and curvilinear gadolinium enhancement 'peppering' the pons. We discuss a patient presenting with clinical and radiographic characteristics of CLIPPERS who was diagnosed with Erdheim-Chester disease (ECD)...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28680751/tocilizumab-in-patients-with-multisystem-erdheim-chester-disease
#13
Alvise Berti, Giulio Cavalli, Barbara Guglielmi, Riccardo Biavasco, Corrado Campochiaro, Alessandro Tomelleri, Roberto Nicoletti, Andrea Panzacchi, Marina Ferrarini, Lorenzo Dagna
Treatment of Erdheim-Chester disease (ECD), a rare non-Langerhans histiocytosis, relies on interferon-α, chemotherapeutic agents such as purine analogs, cytokine-blocking agents and BRAF inhibitors. Since interleukin (IL)-6 levels are elevated in serum and lesions of ECD patients, we evaluated the therapeutic efficacy and safety of IL-6 blockade with tocilizumab. We conducted an open-label, single-arm, phase II, prospective study of tocilizumab in three patients with multisystem ECD and poor tolerance/contraindications to IFN-α...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28679734/high-prevalence-of-myeloid-neoplasms-in-adults-with-non-langerhans-cell-histiocytosis
#14
Matthias Papo, Eli L Diamond, Fleur Cohen-Aubart, Jean-François Emile, Damien Roos-Weil, Nishant Gupta, Benjamin H Durham, Neval Ozkaya, Ahmet Dogan, Gary A Ulaner, Raajit Rampal, Jean-Emmanuel Kahn, Thomas Sené, Frédéric Charlotte, Baptiste Hervier, Caroline Besnard, Olivier A Bernard, Catherine Settegrana, Nathalie Droin, Zofia Hélias-Rodzewicz, Zahir Amoura, Omar Abdel-Wahab, Julien Haroche
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that most commonly affects adults and is driven by a high frequency of mutations in BRAF, MAP2K1, and kinases promoting MAPK signaling. Because of the relative rarity of ECD, key clinical features of the disease may not be well defined. Across a multi-institutional cohort of 189 patients with ECD and ECD overlapping with Langerhans cell histiocytosis (so-called mixed histiocytosis [MH]), we identified an unexpected and heretofore undescribed frequent occurrence of myeloid neoplasms among patients with ECD and MH...
August 24, 2017: Blood
https://www.readbyqxmd.com/read/28670036/complementary-findings-on-18-f-fdg-pet-ct-and-18-f-naf-pet-ct-in-a-patient-with-erdheim-chester-disease
#15
Daniela Sabino, Romulo Hermeto Bueno do Vale, Paulo Schiavom Duarte, Marcelo Tatit Sapienza, Carlos Alberto Buchpiguel
No abstract text is available yet for this article.
May 2017: Radiologia Brasileira
https://www.readbyqxmd.com/read/28667012/targeted-therapies-in-54-patients-with-erdheim-chester-disease-including-follow-up-after-interruption-the-love-study
#16
LETTER
Fleur Cohen Aubart, Jean-François Emile, Fabrice Carrat, Frédéric Charlotte, Neila Benameur, Jean Donadieu, Philippe Maksud, Ahmed Idbaih, Stéphane Barete, Khê Hoang-Xuan, Zahir Amoura, Julien Haroche
No abstract text is available yet for this article.
September 14, 2017: Blood
https://www.readbyqxmd.com/read/28664935/mutually-exclusive-recurrent-kras-and-map2k1-mutations-in-rosai-dorfman-disease
#17
Sofia Garces, L Jeffrey Medeiros, Keyur P Patel, Shaoying Li, Sergio Pina-Oviedo, Jingyi Li, Juan C Garces, Joseph D Khoury, C Cameron Yin
Rosai-Dorfman disease is a histiocytic disorder with a poorly defined pathogenesis. Recent molecular studies have revealed recurrent mutations involving genes in the MAPK/ERK pathway in Langerhans cell histiocytosis and Erdheim-Chester disease. However, cases of Rosai-Dorfman disease have rarely been assessed. We performed next-generation sequencing to assess 134 genes on 21 cases of Rosai-Dorfman disease, including 13 women and 8 men with a median age of 43 years (range, 3-82). In all, 13 had extranodal, 5 had nodal, and 3 had coexistent nodal and extranodal disease...
October 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28664013/erdheim-chester-disease-involving-the-central-nervous-system-with-the-unique-appearance-of-a-coated-vertebral-artery
#18
Hime Suzuki, Masahiko Wanibuchi, Katsuya Komatsu, Yukinori Akiyama, Takeshi Mikami, Shintaro Sugita, Tadashi Hasegawa, Mitsunori Kaya, Kohichi Takada, Nobuhiro Mikuni
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. It is characterized by multiple xanthogranulomatous masses throughout the body, predominantly in the tibia. One of the characteristic radiological findings of the lesions associated with ECD is a "coated artery," which is often observed in the aorta. Although approximately one-fourth of ECD cases involve the central nervous system (CNS), an intracranial-coated artery has only been reported in four cases. We report a case of ECD that involves the CNS and has the unique appearance of a coated vertebral artery (VA)...
October 2016: NMC Case Rep J
https://www.readbyqxmd.com/read/28633251/successful-lung-transplantation-for-pulmonary-disease-associated-with-erdheim-chester-disease
#19
Kohei Hashimoto, Kentaroh Miyoshi, Hisao Mizutani, Shinji Otani, Seiichiro Sugimoto, Masaomi Yamane, Takahiro Oto
A 53-year-old man with pulmonary fibrosis associated with Erdheim-Chester disease achieved long-term survival after lung transplantation. Major clinical manifestations included lung and bone injuries, and other vital organs were functionally unaffected by the disease. After a careful observation for the disease progression, he underwent bilateral deceased-donor lung transplantation. He has returned to his normal social life and is doing well without recurrence of Erdheim-Chester disease in the lung allograft or progression in other organs 5 years after transplant...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28623120/association-between-ischemic-stroke-and-erdheim-chester-disease-a-case-report-and-review-of-literature
#20
Guillaume Fargeot, Sabrina Stefanizzi, Sebastien Depuydt, Frederic Klapczynski, Alain Ameri
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by a xanthogranulomatous infiltration of tissues by spumous histiocytes. Neurological involvement is frequent, but ischemic strokes have been exceptionally described. We report the case of a 68-year-old woman who presented with an acute ischemic stroke associated with a multisystemic disorder including insipidus diabetes, infiltration of the aorta and the carotid arteries, perirenal infiltration, aortitis, and lytic bone lesions...
August 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
keyword
keyword
7457
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"