Erdheim-Chester disease accompanied with Langerhans cell histiocytosis: a case report and literature review
10.3760/cma.j.cn121113-20240925-00531
- VernacularTitle:郎格汉斯细胞组织细胞增生症合并Erdheim-Chester病一例报告及文献复习
- Author:
Quanjin LI
1
;
Ming LI
;
Xinxin XUE
;
Wenzhen ZHAN
;
Zhiming LI
Author Information
1. 山东第二医科大学临床医学院，潍坊 261053
- Publication Type:Journal Article
- Keywords:
Tibia;
Histiocytosis, langerhans-cell;
Erdheim-Chester disease;
Mutation;
BRAFV600E gene
- From:
Chinese Journal of Orthopaedics
2025;45(3):187-191
- CountryChina
- Language:Chinese
-
Abstract:
A rare case of Langerhans cell histiocytosis (LCH) combined with Erdheim-Chester disease (ECD) in the tibia is presented. A 55-year-old female patient experienced a six-month history of left lower leg pain of unknown origin, which progressively worsened over the past month and was accompanied by restricted mobility. Radiographic imaging revealed patchy, mixed-density shadows within the medullary cavities of the middle and lower segments of both tibiae and fibulae. Magnetic resonance imaging (MRI) showed extensive abnormal signal areas in the lower segments of the left tibia and fibula, as well as in the left talus and calcaneus. Positron emission tomography-computed tomography (PET-CT) demonstrated significantly increased diffuse radioactive uptake in the middle and lower segments of both femora, the upper and lower segments of the tibiae, the bilateral talus, the distal radius, and symmetrical uptake in the bilateral elbow joints. Additionally, mild radionuclide uptake was observed in the bilateral clavicles and the upper segment of the right femur. The initial diagnosis suggested a space-occupying lesion in the tibia with a suspicion of ECD. Histopathological examination of a biopsy from the left tibial lesion indicated a histiocytic proliferative disorder. After a multidisciplinary consultation, a definitive diagnosis of LCH with fibrous hyperplasia and extensive infiltration of foam cells, along with scattered multinucleated giant cells, was established. The presence of the BRAFV600E mutation further supported the concurrent diagnosis of ECD. Subcutaneous interferon-α therapy was initiated. Two years later, pulmonary lesions were identified. Computed tomography (CT) revealed multiple round nodules in both lungs, chronic inflammatory changes, and fibrous cord-like lesions. Consequently, interferon treatment was discontinued, and oral vemurafenib was administered. After three years of follow-up, chest CT demonstrated a significant reduction in chronic inflammatory lesions and fibrous cords, along with a decrease in nodule size. Currently, after four years of continuous follow-up, the patient remains in stable condition, experiences no significant discomfort, and continues to receive vemurafenib maintenance therapy. A review of the literature suggests that the co-occurrence of LCH and ECD is rare, often leading to misdiagnosis or delayed diagnosis. While no standardized treatment protocol exists, patients harboring the BRAFV600E mutation may benefit from BRAF inhibitors such as vemurafenib.
