Erdheim‑Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review

Shi,Xiaotong; Sun,Guangzhi; Li,Tongguan; Xu,Mengjiao; Liu,Yixuan; Wang,Zhankui; Hou,Yanfeng

doi:10.3892/etm.2024.12447

Erdheim‑Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review

Authors:
- Xiaotong Shi
- Guangzhi Sun
- Tongguan Li
- Mengjiao Xu
- Yixuan Liu
- Zhankui Wang
- Yanfeng Hou
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Affiliations: School of Clinical Medicine, Shandong Second Medical University, Weifang, Shandong 261053, P.R. China, Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational Medicine, Jinan, Shandong 250000, P.R. China, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, School of Clinical Medicine, Shandong First Medical University, Jinan, Shandong 250117, P.R. China, Department of Rheumatology and Autoimmunology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational Medicine, Shandong Medicine and Health Key Laboratory of Rheumatism, Jinan, Shandong 250000, P.R. China
Published online on: February 22, 2024 https://doi.org/10.3892/etm.2024.12447
Article Number: 159
Copyright: © Shi et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Erdheim‑Chester disease (ECD) is a rare tumor of histiocytic origin, characterized by foamy or lipid‑laden histiocytes mixed or surrounded by fibrosis that infiltrate multiple organs. Misdiagnosis is common due to the diversity of clinical presentations. The present study reported a case of ECD with the involvements of bone, cardiac, aorta and retroperitoneum. The patient had no obvious clinical symptoms and no noteworthy foamy histiocytes or Touton giant cells were found on pathological examination, delaying the diagnosis. The patient was a young male found to have pericardial effusion on physical examination, and computed tomography (CT) revealed soft tissue infiltrates in the retroperitoneum and around the aorta. A mediastinal biopsy revealed fibrous connective tissue with small‑vessel hyperplasia and acute‑chronic inflammatory cell infiltration. The initial diagnosis was retroperitoneal fibrosis (RPF), and hormonal and tamoxifen treatments were administered. The patient presented with oliguria, eyelid edema and fever four years later. A repeat CT revealed an increase in the extent of tissue infiltration and pericardial effusion compared with the previous CT. Subsequent cardiac magnetic resonance imaging revealed massive thickening in the form of fibrotic tissue infiltrating the heart and surrounding thoracic and abdominal aorta. Single photon emission CT revealed multiple areas of increased bone metabolism, particularly symmetrical involvement of the long bones of both lower extremities. A biopsy of the perirenal tissue revealed fibrous tissue and a small number of lymphocytes and macrophages [typical foamy histiocytes observed via x200 magnification and hematoxylin‑eosin (HE) staining, no presence of xanthogranuloma or Touton giant cells]. After a comprehensive evaluation and ruling out other diseases, the diagnosis of ECD was determined. The prognosis of this disease is poor; early diagnosis is critical and requires accurate judgment by clinicians. Biopsies of all involved sites and refinement of genetic tests to guide treatment, if possible, are both necessary.

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