Shi Xiaotong, Sun Guangzhi, Li Tongguan, Xu Mengjiao, Liu Yixuan, Wang Zhankui, Hou Yanfeng
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.
Exp Ther Med. 2024 Feb 22;27(4):159. doi: 10.3892/etm.2024.12447. eCollection 2024 Apr.
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.
厄德里希-切斯特病（ECD）是一种罕见的组织细胞起源肿瘤，其特征为泡沫状或富含脂质的组织细胞，这些细胞混合存在或被浸润多个器官的纤维化组织所包围。由于临床表现多样，误诊很常见。本研究报告了一例累及骨骼、心脏、主动脉和腹膜后的ECD病例。该患者无明显临床症状，病理检查未发现值得注意的泡沫状组织细胞或图顿巨细胞，导致诊断延迟。患者为年轻男性，体检发现心包积液，计算机断层扫描（CT）显示腹膜后及主动脉周围有软组织浸润。纵隔活检显示为纤维结缔组织，伴有小血管增生和急慢性炎性细胞浸润。初步诊断为腹膜后纤维化（RPF），给予激素和他莫昔芬治疗。四年后，患者出现少尿、眼睑水肿和发热。与之前的CT相比，重复CT显示组织浸润范围扩大，心包积液增多。随后的心脏磁共振成像显示，心脏及周围胸主动脉和腹主动脉有大量纤维化组织增厚。单光子发射CT显示多个骨代谢增加区域，尤其是双下肢长骨对称性受累。肾周组织活检显示为纤维组织及少量淋巴细胞和巨噬细胞[经苏木精-伊红（HE）染色，x200放大倍数下观察到典型的泡沫状组织细胞，无黄色肉芽肿或图顿巨细胞]。经过全面评估并排除其他疾病后，确诊为ECD。该病预后较差；早期诊断至关重要，需要临床医生准确判断。对所有受累部位进行活检，并尽可能完善基因检测以指导治疗，两者均有必要。
