Work

Erdheim-Chester disease: unveiling hidden manifestations through two case reports

Year: 2025

Type: article

Abstract: We present two cases of Erdheim-Chester disease (ECD) in 66-year-old female patients, highlighting their distinct clinical manifestations and diagnostic challenges. The first patient presented with chest tightness and dyspnea, revealing pericardial effusion and hypermetabolic foci in multiple organs on imaging. Histopathological analysis indicated abundant foamy histiocytes, confirming ECD. Significant reduction in metabolic lesions following cladribine treatment. The second patient developed subcutaneous nodules post-hysterectomy, later diagnosed with mixed lobular panniculitis. Subsequent biopsies revealed similar histiocyte profiles, leading to ECD diagnosis. She responded well to an immunomodulatory regimen. Notably, whole-exome sequencing detected a MAP2K1 mutation in the second case, which lacked the BRAF V600E mutation commonly associated with ECD. These cases underscore the importance of thorough diagnostic evaluation and highlight the variability in clinical presentation and genetic alterations of ECD, contributing to improved recognition and management strategies for this rare condition.

Source: Frontiers in Oncology

DOI: 10.3389/fonc.2025.1611907

Authors: Guoxia Zhang, Xiaoqing Yang, Lei Fang, Yuxia Cheng, Yanhua Duan, Jing Cui

Institutions: Shandong Provincial QianFoShan Hospital, Shandong First Medical University

Language: English

Topic: Histiocytic Disorders and Treatments

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801