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Can I read Erdheim-Chester disease with Rosai-Dorfman-like lesions: treatment with methotrexate, anakinra and upadacitinib on EtoBox?
Erdheim-Chester disease with Rosai-Dorfman-like lesions: treatment with methotrexate, anakinra and upadacitinib by Jan Portegys; Anke Heidemeier; Andreas Rosenwald; Michael Gernert; Matthias Fröhlich; Sebastian Hueper; Patrick Pascal Strunz; Leo Rasche; Marc Schmalzing is a Medicine article available to read on EtoBox.
What is Erdheim-Chester disease with Rosai-Dorfman-like lesions: treatment with methotrexate, anakinra and upadacitinib about?
Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis characterised by clonal expansion of histiocytes in various organs. These induce an inflammatory environment, which leads to damage of the affected areas. Recently, a new disease entity was proposed encompassing key features of ECD but also of Rosai-Dorfman-Destombes disease, another histiocytosis. Mitogen-activated protein kinase kinase 1 (__MAP2K1)__ mutations seem to present a specific genetic lesion for this subtype. Here, we describe a case of this new disease entity with clinical, radiological and genetic findings compatible with ECD but histological findings compatible with Rosai-Dorfman-Destombes disease. In particular, there were intraabdominal and retroperitoneal lesions, which tested positive for a (c.167A>C; p.Q56P) mutation of the MAP2K1 gene. On histological examination, S100-positive, giant histiocytes with focal emperipolesis of haematological cells in addition to infiltration by lymphocytes and granulocytes were seen. As described for this rare variant of ECD, there was also bilateral testicular infiltration. We also describe a manifestation of oligoarthritis in this patient with ECD. The patient
Who reads Erdheim-Chester disease with Rosai-Dorfman-like lesions: treatment with methotrexate, anakinra and upadacitinib?
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- Author
- Jan Portegys; Anke Heidemeier; Andreas Rosenwald; Michael Gernert; Matthias Fröhlich; Sebastian Hueper; Patrick Pascal Strunz; Leo Rasche; Marc Schmalzing
- Published
- 2023
- Language
- EN
- Field
- Medicine (Health Sciences)