Related Experiment Video
Updated: Mar 12, 2026
14:10
Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies
Published on: January 31, 2013
34.1K
When Erdheim-Chester Disease Reaches the Pectoral Muscle
Nele Carton1, Nilüfer Aylin Acet Öztürk2, Mine Özşen3
1Faculty of Medicine, Department of Pulmonology, KU Leuven, Leuven, Belgium.
European Journal of Case Reports in Internal Medicine
|March 11, 2026
Summary
Erdheim-Chester disease (ECD), a rare neoplastic disorder, can affect various organs, including rare skeletal muscle involvement. Targeted therapies focusing on MAPK/ERK pathway alterations are crucial for improved outcomes.
Area of Science:
- Oncology
- Rare Diseases
- Histiocytic Disorders
Background:
- Erdheim-Chester disease (ECD) is a rare histiocytic disorder with unclear etiology.
- Recent advances reclassify ECD as neoplastic due to MAPK/ERK pathway activation.
- Understanding pathogenesis is key for targeted therapies.
Purpose of the Study:
- To report a rare case of KRAS-mutant ECD with extensive organ involvement.
- To highlight the diagnostic challenges and therapeutic strategies for ECD.
Main Methods:
- Case report of a patient with KRAS-mutant ECD.
- Involved comprehensive whole-body imaging and multiple tissue biopsies.
- Treatment escalated to a MEK inhibitor due to corticosteroid refractoriness.
Main Results:
- The patient presented with pleural, pericardial, diaphragmatic, and pectoral muscle involvement.
- The disease was refractory to initial corticosteroid treatment.
- MEK inhibitor therapy was initiated as a second-line treatment.
Conclusions:
- ECD exhibits significant clinical heterogeneity, affecting diverse organ systems.
- Skeletal muscle involvement in ECD is exceptionally rare.
- Early diagnosis via comprehensive imaging and molecular profiling is vital for effective targeted therapy and improved survival.
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