Erdheim–Chester disease: A systematic review

Cives, Mauro; Simone, Valeria De; Rizzo, Francesca; Dicuonzo, Franca; Lacalamita, Marirosa Cristallo; Ingravallo, Giuseppe; Silvestris, Franco; Dammacco, Franco

doi:10.1016/j.critrevonc.2015.02.004

Cited by 166 publications

(176 citation statements)

References 42 publications

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“…The median age of diagnosis is 53 years, with few cases reported in children. There is an increased male prevalence described in the literature—approximately 62% of cases in one systematic review [1].…”

Section: Discussionmentioning

confidence: 99%

Erdheim-Chester disease, moving away from the orphan diseases: A case report

Stempel

Alvarez

Carpio

et al. 2017

Respiratory Medicine Case Reports

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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. This finding prompted the investigation of therapeutic possibilities with BRAF inhibitors, successful agents against other BRAF mutation-positive diseases. Vemurafenib, a BRAF kinase inhibitor, has been shown to be effective in BRAF V600E mutation-positive malignancies, such as NSCLC and melanoma, as well as in several case reports of Erdheim-Chester disease. We report a case of Erdheim-Chester disease diagnosed at our institution, treated with vemurafenib.

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Section: Discussionmentioning

confidence: 99%

Erdheim-Chester disease, moving away from the orphan diseases: A case report

Stempel

Alvarez

Carpio

et al. 2017

Respiratory Medicine Case Reports

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“…Ces deux dernières atteintes sont associées à un plus mauvais pronostic. L'atteinte osseuse est très fréquente (70-90 % des patients développent cette atteinte au cours de la maladie [2]) et touche particulièrement les os longs des membres inférieurs (fémurs et tibias), comme retrouvé chez cette patiente. L'atteinte du squelette axial est rarement décrite [1,3].…”

Section: Discussionunclassified

Efficacité de l’acide zolédronique dans la maladie d’Erdheim-Chester

Poiroux

Paycha

Polivka

et al. 2016

Revue du Rhumatisme

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“…Xanthomatous or xanthogranulomatous infiltration occurs in the bone, brain, skin, heart, lung, liver and kidney. Similar to LHC, in more than 50% of patients, BRAF (V600E) mutations are found in the early multipotent hematological precursors or local tissue histiocytes (16). In a recent large French study involving 64 patients with ECD, central diabetes insipidus was reported in 33% of patients with a high percentage of concomitant pituitary involvement (91% of patients had partial anterior pituitary failure) (17).…”

Section: Pituitary Metastasismentioning

confidence: 98%

DIAGNOSIS OF ENDOCRINE DISEASE: Expanding the cause of hypopituitarism

Pekić

Popović

2017

European Journal of Endocrinology

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Hypopituitarism is defined as one or more pituitary hormone deficits due to a lesion in the hypothalamic-pituitary region. By far, the most common cause of hypopituitarism associated with a sellar mass is a pituitary adenoma. A high index of suspicion is required for diagnosing hypopituitarism in several other conditions such as other massess in the sellar and parasellar region, brain damage caused by radiation and by traumatic brain injury, vascular lesions, infiltrative/immunological/inflammatory diseases (lymphocytic hypophysitis, sarcoidosis and hemochromatosis), infectious diseases and genetic disorders. Hypopituitarism may be permanent and progressive with sequential pattern of hormone deficiencies (radiation-induced hypopituitarism) or transient after traumatic brain injury with possible recovery occurring years from the initial event. In recent years, there is increased reporting of less common and less reported causes of hypopituitarism with its delayed diagnosis. The aim of this review is to summarize the published data and to allow earlier identification of populations at risk of hypopituitarism as optimal hormonal replacement may significantly improve their quality of life and life expectancy.Correspondence should be addressed to V Popovic

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Erdheim–Chester disease: A systematic review

Cited by 166 publications

References 42 publications

Erdheim-Chester disease, moving away from the orphan diseases: A case report

Erdheim-Chester disease, moving away from the orphan diseases: A case report

Efficacité de l’acide zolédronique dans la maladie d’Erdheim-Chester

DIAGNOSIS OF ENDOCRINE DISEASE: Expanding the cause of hypopituitarism

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