Erdheim-Chester Disease

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Key points

  • Diagnosis of Erdheim-Chester disease (ECD) is based on the identification in tissue biopsy samples of histiocytes, which are typically foamy and immunostain for CD68+ CD1a–, whereas histiocytes in cases of Langerhans cell histiocytosis (LCH) are CD68+ CD1a+.

  • Two signs highly suggestive of ECD are technetium Tc 99m bone scintigraphy showing nearly constant tracer uptake by the long bones and a hairy kidney appearance on abdominal computed tomography scan (observed in about half such cases).

Summary

ECD is a rare and orphan disease. Despite having been overlooked previously, numerous new cases have been diagnosed more recently. The number of ECD cases reported has increased substantially: more than 300 new cases have been published in the past 10 years. This situation is mainly a result of the generally better awareness among pathologists, radiologists, and clinicians of various aspects of this rare disease. The field has been particularly active in the last few years, with evidence of the

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      Therefore, for an unusual histiocytic neoplasm with expression of CD1a and S100, it is recommended to add langerin staining, particularly in the case with no eosinophilic infiltrate. ECD is a rare non-LCH characterized by multisystemic xanthomatous or xanthogranulomatous infiltrates of mature histiocytes in a background of inflammation and fibrosis.54–61 ECD typically occurs in middle-aged to older patients (40–70 years, mean 55 years) with a male-to-female ratio of ∼ 3:1.

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