Erdheim-Chester Disease with Multiorgan Involvement, Following Polycythemia Vera

Alessandra Iurlo, Lorenzo Dagna, Daniele Cattaneo, Nicola Orofino, Paola Bianchi, Giulio Cavalli, Claudio Doglioni, Umberto Gianelli, Agostino Cortelezzi

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Abstract

Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis characterized by the migration and infiltration of lipid-laden CD68 +, CD1a-And S100-histiocytes to various target organs, which leads to the disruption of physiological tissue architecture and reactive fibrosis, and thus impairs organ function. We describe the first case of a patient with Erdheim-Chester disease with multiorgan involvement developed after 6 years from polycythemia vera diagnosis. During the follow-up, an abdominal ultrasound scan revealed the presence of dense, bilateral perinephric infiltration. A computed tomographic guided core biopsy was performed in order to identify the histological nature of this lesion, and a morphological analysis demonstrated the accumulation of foamy histiocytes surrounded by fibrosis. The BRAFV600E mutation was detected, and a diagnosis of Erdheim-Chester disease was made. The extreme rarity of Erdheim-Chester disease strongly suggests the existence of potentially common element(s) that may have contributed to the pathogenesis of both disorders. Obviously, further studies are needed to clarify the mutual roles and effects of JAK2 and BRAF mutations in this patient, as well as their possible therapeutic implications.

Original languageEnglish
Article numbere3697
JournalMedicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
Volume95
Issue number20
DOIs
Publication statusPublished - May 1 2016

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ASJC Scopus subject areas

  • Medicine(all)

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