The multifaceted clinical presentations and manifestations of Erdheim–Chester disease: comprehensive review of the literature and of 10 new cases

Cavalli, Giulio; Guglielmi, B.; Berti, Alvise; Campochiaro, Corrado; Sabbadini, Maria Grazia; Dagna, Lorenzo

doi:10.1136/annrheumdis-2012-202542

Cited by 173 publications

(200 citation statements)

References 18 publications

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“…As mentioned, ECD shares clinical features with LCH (Table 2) but bears little clinical similarity to other non-LCH histiocytoses, with the exception of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). 24,25 Although infiltration of nearly every organ system has been reported in ECD, [26][27][28][29][30][31] the tissues most commonly affected include the skeleton, retroperitoneum, and orbit in addition to the cardiovascular, pulmonary, neurologic, and endocrine systems ( Figure 3). Below is a discussion of the organ systems affected by ECD with a consideration of the differential diagnosis for each regional presentation.…”

Section: 23mentioning

confidence: 99%

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

Diamond

Dagna

Hyman

et al. 2014

Blood

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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. (Blood. 2014;124(4):483-492)

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Section: 23mentioning

confidence: 99%

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

Diamond

Dagna

Hyman

et al. 2014

Blood

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695

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“…Although, according to the WHO classification, ECD is a neoplasm deriving from histiocytes, there is a long standing debate as to whether the disorder is of malignant or polyclonal reactive nature [3]. Clinical manifestations of ECD at presentation are protean and encompass bone pain, diabetes insipidus, neurological and constitutional symptoms, although retroperitoneal, cutaneous, cardiovascular and pulmonary involvement have also been described [4,5]. Since the clinical picture of ECD arises as a slowly forming mosaic with sequential manifestations, the diagnosis is often challenging.…”

Section: Introductionmentioning

confidence: 99%

Erdheim–Chester disease: A systematic review

Cives

Simone

Rizzo

et al. 2015

Critical Reviews in Oncology/Hematology

174

157

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“…Histologically, this disorder is characterized by a relatively bland-appearing epithelioid to spindle cell proliferation often with a foamy (xanthomatous) component, especially in older lesions, and variablyprominent multinucleated Touton-type giant cells (xanthogranulomatous). This histiocytic proliferation is positive for histiocytic markers, such as CD68 and CD163, and negative for CD1a and Langerin [2,4,6,8]. In most cases (80%), staining for S-100 protein is also negative [2, 4-6, 9, 10].…”

Section: Discussionmentioning

confidence: 99%

An unusual case of Erdheim–Chester disease

Cortes¹,

Acree²,

Herle³

2016

IJCRI

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International Journal of Case Reports and Images (IJCRI) is an international, peer reviewed, monthly, open access, online journal, publishing high-quality, articles in all areas of basic medical sciences and clinical specialties.Aim of IJCRI is to encourage the publication of new information by providing a platform for reporting of unique, unusual and rare cases which enhance understanding of disease process, its diagnosis, management and clinico-pathologic correlations.

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The multifaceted clinical presentations and manifestations of Erdheim–Chester disease: comprehensive review of the literature and of 10 new cases

Abstract: Physicians should be aware of the extraordinarily heterogeneous clinical presentations and manifestations of ECD in order to include ECD in the differential diagnosis of several conditions.

Cited by 173 publications

References 18 publications

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

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

Erdheim–Chester disease: A systematic review

An unusual case of Erdheim–Chester disease

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