DOI: 10.12890/2026_006217

When Erdheim-Chester disease reaches the pectoral muscle

Authors

  • Nele Carton Faculty of Medicine, Department of Pulmonology, KU Leuven, Leuven, Belgium 0009-0003-0369-7288
  • Nilüfer Aylin Acet Öztürk Faculty of Medicine, Department of Pulmonology, Uludağ University, Bursa, Turkey 0000-0002-6375-1472
  • Mine Özşen Faculty of Medicine, Department of Pathology, Uludağ University, Bursa, Turkey 0000-0002-5771-7649
  • Özge Aydın-Güçlü Faculty of Medicine, Department of Pulmonology, Uludağ University, Bursa, Turkey 0000-0003-1005-3205
  • Ahmet Ursavaş Faculty of Medicine, Department of Pulmonology, Uludağ University, Bursa, Turkey 0000-0003-4482-5904

nele.carton@hotmail.com

Keywords

Erdheim-Chester disease, muscle involvement, KRAS mutation, MEK inhibitor

Abstract

Erdheim-Chester disease (ECD) is a rare histiocytic disorder. The underlying etiology has not yet been fully elucidated. Recent technological and molecular advances have identified aberrant activation of the MAPK/ERK signalling pathway as a central driver of disease, leading to its reclassification as a neoplastic entity rather than solely a multisystem fibroinflammatory condition. These insights have significantly advanced the understanding of disease pathogenesis and are fundamental to the development and implementation of targeted therapeutic strategies.
We describe a case of KRAS-mutant ECD with pleural, pericardial, diaphragmatic, and pectoral muscle involvement in a patient with a prior hematologic history. The disease was refractory to corticosteroid therapy, prompting escalation to second-line treatment with a MEK inhibitor.

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References

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Published

2026-02-27

Issue

Vol. 13 No. 3 (2026)

Categories

How to Cite

1.
Carton N, Acet Öztürk NA, Özşen M, Aydın-Güçlü Ö, Ursavaş A. When Erdheim-Chester disease reaches the pectoral muscle. EJCRIM [Internet]. 2026 Feb. 27 [cited 2026 Nov. 3];13(3). Available from: https://ejcrim.com/index.php/ejcrim/article/view/6217