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<p>Rosai-Dorfman disease (RDD) is a rare benign histiocytic disorder primarily characterized by lymphadenopathy, though skeletal involvement poses diagnostic challenges, especially in pediatric patients. Skeletal RDD may mimic malignancies, necessitating meticulous differential diagnosis. While its etiology remains unclear, genetic factors (e.g., KRAS mutations) and immune dysregulation are implicated. Imaging modalities like MRI and biopsy are crucial for diagnosis, but evidence supporting non-surgical management strategies remains limited. A 9-year-old girl presented with a 1-month history of left calf pain. Imaging revealed low-density foci in the left tibia with periosteal reaction, initially raising suspicion of a tumor. Puncture biopsy confirmed RDD via histopathological evidence of granulomatous tissue with histiocytic emperipolesis. Conservative management with limb immobilization was initiated, and 12-month follow-up imaging showed reduced lesion size and periosteal reaction, with full functional recovery. Skeletal RDD often manifests with bone pain and imaging features resembling osteosarcoma or infection. Key diagnostic hallmarks include S-100 + histiocytes with phagocytic activity. Treatment strategies vary, with surgery reserved for decompression; however, this case supports conservative management for localized lesions. Emerging therapies like corticosteroids and targeted inhibitors show promise, but long-term efficacy data are lacking. This case highlights RDD as a critical differential diagnosis for pediatric bone lesions. Non-surgical management may suffice for uncomplicated cases, underscoring the need for multidisciplinary collaboration in rare disease care. Future research should prioritize biomarker discovery and personalized treatment optimization.</p>

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A Case Report of Rosai-Dorfman Disease in a 9-Year-Old Girl with Left Tibia Involvement: Insights into Etiology, Clinical Presentation, and Treatment Advances

  • 期刊论文

  • 发表日期：

    2025年6月12日

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  • Khan Akhtar Ali,
  • Xin Bao,
  • Mi Li,
  • Elaheh Safari,
  • Hui Huang,
  • Hao Li,
  • Xiaojuan Li

摘要

Rosai-Dorfman disease (RDD) is a rare benign histiocytic disorder primarily characterized by lymphadenopathy, though skeletal involvement poses diagnostic challenges, especially in pediatric patients. Skeletal RDD may mimic malignancies, necessitating meticulous differential diagnosis. While its etiology remains unclear, genetic factors (e.g., KRAS mutations) and immune dysregulation are implicated. Imaging modalities like MRI and biopsy are crucial for diagnosis, but evidence supporting non-surgical management strategies remains limited. A 9-year-old girl presented with a 1-month history of left calf pain. Imaging revealed low-density foci in the left tibia with periosteal reaction, initially raising suspicion of a tumor. Puncture biopsy confirmed RDD via histopathological evidence of granulomatous tissue with histiocytic emperipolesis. Conservative management with limb immobilization was initiated, and 12-month follow-up imaging showed reduced lesion size and periosteal reaction, with full functional recovery. Skeletal RDD often manifests with bone pain and imaging features resembling osteosarcoma or infection. Key diagnostic hallmarks include S-100 + histiocytes with phagocytic activity. Treatment strategies vary, with surgery reserved for decompression; however, this case supports conservative management for localized lesions. Emerging therapies like corticosteroids and targeted inhibitors show promise, but long-term efficacy data are lacking. This case highlights RDD as a critical differential diagnosis for pediatric bone lesions. Non-surgical management may suffice for uncomplicated cases, underscoring the need for multidisciplinary collaboration in rare disease care. Future research should prioritize biomarker discovery and personalized treatment optimization.