Erdheim-Chester disease: a comprehensive review from the ophthalmologic perspective

Kanakis, Menelaos; Petrou, Petros; Lourida, Giota; Georgalas, Ilias

doi:10.1016/j.survophthal.2021.05.013

Cited by 13 publications

(28 citation statements)

References 306 publications

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“…Central nervous system and orbital infiltration by malignant histiocytes manifesting as neurologic deficits and exophthalmos has been seen in about 40% and 25%, in ECD, respectively 3,5 . Ocular involvement has been documented around 30% of cases with ECD which could manifest as uveities, retinal detachment, corneal infiltration by histiocytics, optic disc oedema and vitreitis 6 …”

Section: Resultsmentioning

confidence: 99%

“…Immunohistochemistry showed that the histiocytes were positive for CD68, CD163 (Fig 3C) and negative for BRAF V600E . An initial diagnosis of ECD was entertained based on histopathologic features of the biopsy and clinical findings since ophthalmologic involvement manifesting as exophthalmos and ophthalmoplegia has been reported in around 30% of patients with ECD 6 . Targeted NGS using the Tempus xT ® targeted panel was pursued, but the test failed due to inadequate tissue sample.…”

Section: Resultsmentioning

confidence: 99%

“…3,5 Ocular involvement has been documented around 30% of cases with ECD which could manifest as uveities, retinal detachment, corneal infiltration by histiocytics, optic disc oedema and vitreitis. 6 The histopathology of ECD is often characterised by the presence of foamy histiocytes, admixed with Touton giant cells in a background of inflammation and fibrosis (Fig 5 1,3 These morphologic and immunophenotypic features are not specific and often overlap with benign entities such as reactive histiocytic proliferations and other mimickers as described in Cases 1-4.…”

Section: Erdheim-chester Diseasementioning

confidence: 99%

“…Clinical features that are characteristic of ECD include anterior pituitary dysfunction and periorbital xanthelasmas. Further, the presence of BRAF or other mitogen‐activated protein kinase ( MAPK ) alterations in combination with the clinical, histopathologic and radiologic findings solidifies the diagnosis of ECD 2,4–7 …”

Section: Introductionmentioning

confidence: 99%

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Mimics of Erdheim–Chester disease

et al. 2021

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Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm with frequent multiorgan involvement. An accurate diagnosis of ECD requires the correlation of clinical features, histopathologic and radiologic findings. We describe a case series of patients with a referral diagnosis of ECD, whereby the diagnosis was changed to non-histiocytic diseases after comprehensive review at a tertiary care center. This accurate revision of the referral diagnosis of ECD enabled initiation of proper disease-directed therapy in a timely manner for these patients and avoided unnecessary exposure to systemic cytotoxic chemotherapy or targeted agents. Our study highlights the value of a multidisciplinary team of histiocytosis experts in confirming the diagnosis of ECD and also brings attention to other conditions to consider that can mimic ECD, including osteopoikilosis, tenosynovial giant cell tumour, IgG4-related disease, fibrous dysplasia and chronic recurrent multifocal osteomyelitis.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Erdheim-chester Diseasementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Mimics of Erdheim–Chester disease

et al. 2021

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“…The patient was treated with interferon-α 5. At 1-year follow-up, the symptoms of dyspnoea were significantly relieved, and the pericardial effusion was significantly reduced (online supplemental videos).…”

Section: Answer: Cmentioning

confidence: 99%