Erdheim–Chester disease

Starkebaum, Gordon; Hendrie, Paul C.

doi:10.1016/j.berh.2020.101510

Cited by 31 publications

(43 citation statements)

References 102 publications

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“…ECD is a multisystem non‐Langerhans histiocytic disorder first described by American pathologist William Chester and Austrian pathologist Jakob Erdheim in 1930 as lipoid granulomatose 9 . The disease is quite rare with approximately 1000 cases reported in the medical literature 10 . The onset is in middle age (mean age >50 years) with a slight male preponderance; pediatric cases have been reported 2,4,11,12 .…”

Section: Discussionmentioning

confidence: 99%

“…Bilateral symmetric increased tracer uptake in diaphysis and metaphysis with epiphyseal sparing of femur and tibia on radionuclide bone scan is highly suggestive of ECD 3,11,25 . Chest and abdominal CT/MRI may detect other pathognomonic findings of circumferential periaortic infiltration/sheathing (“coated aorta”) and perinephric infiltration (“hairy kidney”) and also help identify the potential sites for biopsy to confirm the diagnosis 10,17,18,40 . Cardiac MRI may demonstrate the typical findings of right atrial pseudotumor and thickened interatrial septum 11,17,20 .…”

Section: Diagnostic Evaluationmentioning

confidence: 99%

“…The typical histopathological finding is xanthogranulomatous lesions containing foamy histiocytes with small nuclei accompanied by occasional multinucleated Touton cells and variable degree of inflammation and fibrosis 2,3,8,11 . The inflammatory cells are typically absent although some lesions may demonstrate focal plasma cells and lymphocytes 8 On immunohistochemistry, the histiocytes in ECD are positive for CD68, CD163, CD14, CD45, factor XIIIa, and fascin, negative for CD1a, langerin, and CD207 and only rarely positive for S100 (negative in 80% cases), distinguishing them from LHC 2,3,10,37,46 . The electron microscopy finding of absent cytoplasmic Birbeck granules, a characteristic feature of LHC further confirms the histiocytes to be non‐LHC origin.…”

Section: Diagnostic Evaluationmentioning

confidence: 99%

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Clinical and Neuroimaging Manifestations of Erdheim–Chester Disease: A Review

Garg

Lavi

2020

Journal of Neuroimaging

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Erdheim–Chester disease (ECD) is a rare disorder characterized by accumulation of non‐Langerhans cell histiocytes in multiple organs. The clinical manifestations are protean and vary from asymptomatic focal disease to potentially fatal multisystem disorder. The commonest presentation is symmetric osterosclerotic lesions of lower extremity long bones; other organs, including cardiovascular, nervous, and endocrine system may be affected. Central nervous system involvement can occur in up to 50% cases and is associated with poor prognosis. The disease pathogenesis involves organ involvement secondary to histiocytic infiltration and systemic inflammation driven by Th1 cytokine activation. The recent discovery of activating mutations in proto‐oncogene B‐rapidly accelerated fibrosarcoma (BRAF) V600E and other genes involved in mitogen‐activated protein kinase (MAPK) pathways has led to redefinition of ECD as a myeloid neoplastic disorder. The diagnosis requires histochemical and molecular analysis of histiocytes in tissue biopsies in patients with compatible clinical and imaging features. The treatment options include interferon‐alpha, anakinra, and immunosuppressive therapies. Better understanding of disease pathogenesis has led to development of novel targeted and effective therapies including BRAF and MEK inhibitors. The rarity of the disease and variable clinical features and course often results in diagnostic errors and delays. Rare primary neurological presentation can occur mimicking CNS inflammatory, neoplastic, or demyelinating disorders. We report an unusual case of ECD presenting with progressive encephalopathy and ataxia along with multifocal brainstem and cerebellar lesions. A comprehensive review of clinical and neuroimaging features and immunohistochemical and molecular characteristic of ECD are presented along with review of neuroimaging findings in two previously reported cases.

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Section: Discussionmentioning

confidence: 99%

Section: Diagnostic Evaluationmentioning

confidence: 99%

Section: Diagnostic Evaluationmentioning

confidence: 99%

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Clinical and Neuroimaging Manifestations of Erdheim–Chester Disease: A Review

Garg

Lavi

2020

Journal of Neuroimaging

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“…The cases are generally diagnosed between the ages of 40-70. It is slightly more common in men (2)(3)(4).…”

Section: Introductionmentioning

confidence: 98%

“…Histiocytes are CD 68 positive and CD 1a negative (3,5,7). More than half of the cases have the BRAFV600E (B-rapidly accelerated fibrosarcoma gene) mutation (3,4,7,8). Corticosteroids, interferon (INF), anti-cytokine therapy, and targeted therapies, BRAF inhibitor, vemurafenib and MEK inhibitors can be used in treatment (1, 2, 8).…”

Section: Introductionmentioning

confidence: 99%

Case of BRAF mutant Erdheim-Chester disease presenting with multisystem involvement: A case report

et al. 2021

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Objective: Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis of unknown etiology. It is a multisystemic disease that can involve bones, skin, brain, retroperitoneum, cardiovascular system, endocrine system, and lungs. Diagnosis is made by clinical findings, imaging results, and histopathological examination. BRAFV600E (B-rapidly accelerated fibrosarcoma gene) mutation is found in more than half of the cases. When Erdheim-Chester disease is not considered the differential diagnosis, it is not possible to diagnose and treat. In this case report, an Erdheim-Chester case with symptomatic, multisystem involvement, BRAFV600E mutation, and initiated vemurafenib treatment is presented in the light of literature data.

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