scholarly journals Erdheim-Chester disease with multisystemic involvement: a diagnostic challenge

2019 ◽  
Vol 7 (10) ◽  
pp. 3928
Author(s):  
Arpita Nishal ◽  
Komal Patel ◽  
Vasudha Bhagat ◽  
Siddhi Patel ◽  
Nency Gandhi ◽  
...  
Keyword(s):  
Unknown Origin ◽  
Tracer Uptake ◽  
Diagnostic Challenge ◽  
Erdheim Chester Disease ◽  
Radiological Data ◽  
Organ Systems ◽  
Critical Organ ◽  
Mononuclear Infiltrate ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim–Chester disease (ECD) is a rare, non-inherited, non- Langerhans form of histiocytosis of unknown origin, first described in 1930. This entity is defined by a mononuclear infiltrate consisting of lipid laden, foamy histiocytes that stain positively for CD68. Individuals affected by this disease are typically adults between their 4th and 6th decades of life. The multi systemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most common presenting symptom of ECD is bone pain. Bilateral symmetric increased tracer uptake on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is highly suggestive of ECD. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen with aid of clinical and radiological data. Here we present a rare case of Erdheim-Chester disease in a 46 year male patient based on clinical data, radiological data, histopathological and immunohistochemistry findings.

scholarly journals Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature

2017 ◽  
Vol 10 (2) ◽  
pp. 501-507 ◽  
Author(s):  
Sultan Alotaibi ◽  
Osama Alhafi ◽  
Hatem Nasr ◽  
Khalid Eltayeb ◽  
Ghaleb Elyamany
Keyword(s):  
Interferon Alpha ◽  
Case Reports ◽  
Treatment Options ◽  
Braf Inhibitor ◽  
Erdheim Chester Disease ◽  
Organ Systems ◽  
Disease Case ◽  
Critical Organ ◽  
Erdheim Chester ◽  
Chester Disease

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. Current available treatment is interferon alpha as the first line of treatment. Treatment with other agents is based on anecdotal case reports. Cladribine, anakinra, and vemurafenib (BRAF inhibitor) are currently advocated as promising second-line treatments for patients whose response to interferon alpha is unsatisfactory. Herein, we are reporting a middle-aged Saudi male patient with an aggressive type of ECD and highlighting the clinical, radiological, and pathological manifestations associated with ECD and the various treatment options and patient follow-up.

scholarly journals Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease

Blood ◽  
2014 ◽  
Vol 124 (4) ◽  
pp. 483-492 ◽  
Author(s):  
Eli L. Diamond ◽  
Lorenzo Dagna ◽  
David M. Hyman ◽  
Giulio Cavalli ◽  
Filip Janku ◽  
...  
Keyword(s):  
Clinical Management ◽  
Clinical Laboratory ◽  
Clinical Manifestations ◽  
Multiple Organ ◽  
Future Research ◽  
Consensus Guidelines ◽  
Erdheim Chester Disease ◽  
Organ Systems ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytosis. Recent findings suggest that ECD is a clonal disorder, marked by recurrent BRAFV600E mutations in >50% of patients, in which chronic uncontrolled inflammation is an important mediator of disease pathogenesis. Although ∼500 to 550 cases have been described in the literature to date, increased physician awareness has driven a dramatic increase in ECD diagnoses over the last decade. ECD frequently involves multiple organ systems and has historically lacked effective therapies. Given the protean clinical manifestations and the lack of a consensus-derived approach for the management of ECD, we provide here the first multidisciplinary consensus guidelines for the clinical management of ECD. These recommendations were outlined at the First International Medical Symposium for ECD, comprised of a comprehensive group of international academicians with expertise in the pathophysiology and therapy of ECD. Detailed recommendations on the initial clinical, laboratory, and radiographic assessment of ECD patients are presented in addition to treatment recommendations based on critical appraisal of the literature and clinical experience. These formalized consensus descriptions will hopefully facilitate ongoing and future research efforts in this disorder.

scholarly journals High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses

Blood ◽  
2012 ◽  
Vol 120 (13) ◽  
pp. 2700-2703 ◽  
Author(s):  
Julien Haroche ◽  
Frédéric Charlotte ◽  
Laurent Arnaud ◽  
Andreas von Deimling ◽  
Zofia Hélias-Rodzewicz ◽  
...  
Keyword(s):  
Unknown Origin ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Juvenile Xanthogranuloma ◽  
Braf Mutations ◽  
Dendritic Cell Sarcoma ◽  
Erdheim Chester Disease ◽  
Rosai Dorfman Disease ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Histiocytoses are rare disorders of unknown origin with highly heterogeneous prognosis. BRAF mutations have been observed in Langerhans cell histiocytosis (LCH). We investigated the frequency of BRAF mutations in several types of histiocytoses. Histology from 127 patients with histiocytoses were reviewed. Detection of BRAFV600 mutations was performed by pyrosequencing of DNA extracted from paraffin embedded samples. Diagnoses of Erdheim-Chester disease (ECD), LCH, Rosai-Dorfman disease, juvenile xanthogranuloma, histiocytic sarcoma, xanthoma disseminatum, interdigitating dendritic cell sarcoma, and necrobiotic xanthogranuloma were performed in 46, 39, 23, 12, 3, 2, 1, and 1 patients, respectively. BRAF status was obtained in 93 cases. BRAFV600E mutations were detected in 13 of 24 (54%) ECD, 11 of 29 (38%) LCH, and none of the other histiocytoses. Four patients with ECD died of disease. The high frequency of BRAFV600E in LCH and ECD suggests a common origin of these diseases. Treatment with vemurafenib should be investigated in patients with malignant BRAFV600E histiocytosis.

scholarly journals Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion

CytoJournal ◽  
2011 ◽  
Vol 8 ◽  
pp. 22 ◽  
Author(s):  
Bibianna Purgina ◽  
Ronald Jaffe ◽  
Sara E. Monaco ◽  
Walid E. Khalbuss ◽  
H. Scott Beasley ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Factor Xiiia ◽  
Soft Tissue Lesion ◽  
Multisystem Disorder ◽  
Tissue Mass ◽  
Tissue Lesion ◽  
Erdheim Chester Disease ◽  
Organ Systems ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim–Chester disease (ECD) is a rare, multisystem disorder of macrophages. Patients manifest with histiocytic infiltrates that lead to xanthogranulomatous lesions in multiple organ systems. The cytologic features of this disorder are not well characterized. As a result, the cytologic diagnosis of ECD can be very challenging. The aim of this report is to describe the cytomorphology of ECD in a patient presenting with a retroperitoneal soft tissue lesion. A 54-year-old woman with proptosis and diabetes insipidus was found on imaging studies to have multiple intracranial lesions, sclerosis of both femurs and a retroperitoneal soft tissue mass. Fine needle aspiration (FNA) and a concomitant core biopsy of this abnormal retroperitoneal soft tissue revealed foamy, epithelioid and multinucleated histiocytes associated with fibrosis. The histiocytes were immunoreactive for CD68, CD163, Factor XIIIa and fascin, and negative for S100, confirming the diagnosis of ECD. ECD requires a morphologic diagnosis that fits with the appropriate clinical context. This case describes the cytomorphologic features of ECD and highlights the role of cytology in helping reach a diagnosis of this rare disorder.

scholarly journals Erdheim–Chester Disease

2015 ◽  
Vol 1 (3) ◽  
pp. 55-57
Author(s):  
Mamatha Patil ◽  
Deepak Jaiswal
Keyword(s):  
Medical Literature ◽  
Young Male ◽  
Normal Function ◽  
The Body ◽  
Loose Connective Tissue ◽  
Erdheim Chester Disease ◽  
Organ Systems ◽  
Erdheim Chester ◽  
Chester Disease ◽  
System Organ

ABSTRACT Erdheim–Chester disease (ECD) is an extremely rare disorder that can affect many different organs of the body. This is an unusual form of non-Langerhans-cell histiocytosis. This is characterized by excessive production and accumulation of histiocytes. The normal function of the histiocytes is to fight infections. Histiocytes accumulate in the loose connective tissue of various organ systems of the body and cause thickening of tissues and may become dense and fibrotic. In the absence of successful treatment, the disease is debilitating and can result in multi-system organ failure. Erdheim–Chester disease is often described in the medical literature as an extremely rare1 entity. Erdheim–Chester disease usually presents in adults aged between 40 and 60 years. Here we present a case report of ECD in a 26-year-old young male patient with progressive course over a period of 4 years with symptoms suggestive of multi-organ involvement. How to cite this article Patil M, Jaiswal D. Erdheim–Chester Disease. J Med Sci 2015;1(3):55-57.

scholarly journals Cardiothoracic manifestations of Erdheim-Chester disease

2019 ◽  
Vol 92 (1104) ◽  
pp. 20190473 ◽  
Author(s):  
Jeeban Paul Das ◽  
Lola Xie ◽  
Chris C Riedl ◽  
Sara A Hayes ◽  
Michelle S Ginsberg ◽  
...  
Keyword(s):  
Systemic Disease ◽  
Disease Diagnosis ◽  
Imaging Features ◽  
Cross Sectional ◽  
Skeletal Involvement ◽  
Erdheim Chester Disease ◽  
Contrast Enhanced Ct ◽  
Organ Systems ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis which can have a broad range of clinical and radiological presentations. Typically, ECD affects multiple organ systems, with skeletal involvement present in almost all ECD patients and cardiothoracic manifestations in more than half. Cardiac and thoracic involvement contributes significantly to morbidity and mortality in affected patients and may have prognostic implications. The diagnosis of ECD can be challenging due to its rarity and similarity to other systemic disease processes. Although the diagnosis can be suggested on imaging, histopathology and immunohistochemistry are required for confirmation. We describe the multimodal imaging features of mediastinal, cardiac, pleural and lung parenchymal ECD. This review identifies the most common radiological manifestations of cardiac and thoracic ECD on contrast-enhanced CT, fluorine18-fludeoxyglucose positron emission tomography/CT and cardiac MRI, and highlights the role of these cross-sectional techniques in disease diagnosis.

scholarly journals Erdheim-Chester disease mimicking an intracranial trigeminal schwannoma: case report

2015 ◽  
Vol 15 (5) ◽  
pp. 493-498 ◽  
Author(s):  
Maysam Alimohamadi ◽  
Christian Hartmann ◽  
Vincenzo Paterno ◽  
Madjid Samii
Keyword(s):  
Central Nervous System Involvement ◽  
Multiple Organ ◽  
Imaging Features ◽  
Aged Patients ◽  
Trigeminal Schwannoma ◽  
Erdheim Chester Disease ◽  
Meningeal Involvement ◽  
Organ Systems ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is non-Langerhans histiocytosis that can affect multiple organ systems. It usually affects middle-aged patients, and only a few reports of ECD in children appear in the literature. Central nervous system involvement is a common feature that usually occurs as infiltration of the hypothalamus-pituitary axis, cerebellum, and/or brainstem. Meningeal involvement occurs less commonly. In this article, the authors discuss a rare pediatric case of ECD presenting as an infiltrative mass of the trigeminal nerve and resembling the clinical and imaging features of a trigeminal schwannoma.

Erdheim–Chester disease: A rare cause of recurrent fever of unknown origin mimicking lymphoma

2013 ◽  
Vol 46 (1) ◽  
pp. 76-79 ◽  
Author(s):  
Anusiyanthan Mariampillai ◽  
Abirami Sivapiragasam ◽  
Amit Kumar ◽  
Alexander Hindenburg ◽  
Burke A. Cunha ◽  
...  
Keyword(s):  
Fever Of Unknown Origin ◽  
Unknown Origin ◽  
Recurrent Fever ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals Fever of unknown origin as the first manifestation of Erdheim-Chester disease

2013 ◽  
Vol 02 (06) ◽  
pp. 351-357
Author(s):  
Ning Li ◽  
Mingquan Chen ◽  
Huaping Sun ◽  
Yun Bao ◽  
Jiming Zhang
Keyword(s):  
Fever Of Unknown Origin ◽  
Unknown Origin ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals A Rare Case of Erdheim-Chester Disease (Non-Langerhans Cell Histiocytosis) with Concurrent Langerhans Cell Histiocytosis: A Diagnostic and Therapeutic Challenge

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Hamza Hashmi ◽  
Drew Murray ◽  
John Greenwell ◽  
Marwan Shaikh ◽  
Soumit Basu ◽  
...  
Keyword(s):  
Interferon Alpha ◽  
Langerhans Cell Histiocytosis ◽  
Rare Case ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Therapeutic Challenge ◽  
Erdheim Chester Disease ◽  
Organ Systems ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocyte disorder most commonly characterized by multifocal osteosclerotic lesions of the long bones demonstrating sheets of foamy histiocyte infiltrates on biopsy with or without histiocytic infiltration of extraskeletal tissues. ECD can be difficult to diagnose since it is a very rare disease that can affect many organ systems. Diagnosis is based on the pathologic evaluation of involved tissue interpreted within the clinical context. Patients who have the BRAF V600E mutation are treated first line with vemurafenib. For those without the mutation with symptomatic ECD, conventional or PEGylated interferon alpha is recommended. For patients who are either intolerant or nonresponsive to interferon alpha, systemic chemotherapy with or without corticosteroids can be used. We present a rare case of Erdheim-Chester disease with concurrent Langerhans cell histiocytosis which occurs in only one fifth of the cases and often presents as a diagnostic and therapeutic challenge.

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