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Case Reports
. 2022 Nov;43(6):449-453.
doi: 10.1007/s00292-022-01095-z. Epub 2022 Jul 20.

[Rare differential diagnosis in bilateral gonalgia]

[Article in German]
Michael Mayr  1 , Niklas Zojer  2 , Siroos Mirzaei  3 , Andreas Chott  4
Affiliations
Case Reports

[Rare differential diagnosis in bilateral gonalgia]

[Article in German]
Michael Mayr et al. Pathologie (Heidelb). 2022 Nov.

Abstract
in English, German

We report on a 47-year-old patient suffering from bilateral gonalgia, weight loss and night sweats without fever of several months' duration. Diagnostic work-up for infectious and autoimmune diseases showed no abnormal results. A CT scan showed extensive foci of sclerosis throughout the axial skeleton. In the trephine biopsy, foamy cell infiltrates were found with expression of histiocytic markers without expression of Langerhans cell markers. Molecular analysis revealed a low allelic BRAF V600E and BCOR mutation. The diagnosis of Erdheim-Chester disease (ECD) was made. The histologic findings and molecular findings, the clinical and radiologic presentation before and 6 months after therapy as well as possible differential diagnoses of this very rare disease are discussed.

Wir präsentieren eine 47 Jahre alte Patientin mit seit mehreren Monaten bestehender bilateraler Gonalgie, Gewichtsverlust und Nachtschweiß ohne Fieber. Eine durchgeführte Infektions- und Autoimmundiagnostik ist negativ ausgefallen. Der CT-Scan zeigt ausgedehnte Skleroseherde im gesamten Achsenskelett. In der Beckenkammbiopsie finden sich Schaumzellinfiltrate mit Expression histiozytärer Marker ohne Expression von Langerhans-Zell-Markern. Molekulargenetisch werden eine niedrigallelige BRAF-V600E- und eine BCOR-Mutation nachgewiesen. Die Diagnose einer Erdheim-Chester-Erkrankung (ECD) wird gestellt und eine Therapie mit dem Kinaseinhibitor Vemurafenib gestartet. Diskutiert werden die histologischen und molekulargenetischen Befunde, die klinische und radiologische Präsentation vor und 3 Monate nach Therapie sowie mögliche Differenzialdiagnosen dieser sehr seltenen Erkrankung.

Keywords: BCOR; BRAF V600E; ECD; Erdheim-Chester disease; Histiocytic neoplasm.

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References

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