Miles Lili, Baughn Caroline, Silva Gleidson Messias, Douglas Dorothea L, Shao Lei
Department of Pathology and Laboratory Medicine, Nemours Children's Health, Orlando, FL, USA.
Department of General Surgery, University of Texas Medical Branch at Galveston, Galveston, TX, USA.
Am J Case Rep. 2025 Aug 27;26:e948533. doi: 10.12659/AJCR.948533.
BACKGROUND Sinus histiocytosis with massive lymphadenopathy (also known as Rosai-Dorfman disease [RDD]), was originally recognized in 1969 by Rosai and Dorfman. RDD is characterized by the accumulation of activated histiocytes in various tissues and organs, but most commonly in lymph nodes. RDD is subclassified into 2 forms. The more common form, nodal RDD, and the rare form, extranodal RDD, which is based on the presence of extranodal tissue involvement. Most extranodal RDD cases also involve lymph nodes. Primary, exclusively extranodal RDD is rare, and is exceedingly uncommon in young pediatric patients. These cases have rarely been reported in the medical literature. CASE REPORT This 16-month-old previously healthy boy presented with right-forearm pain, following a right-wrist injury. Imaging studies revealed an aggressive lesion of the distal radius with the presence of an adjacent soft-tissue component. The core-needle tissue biopsy suggested osteomyelitis. Because the patient was not responsive to antibiotics, he underwent curettage with washout for the management of presumed osteomyelitis. RDD was diagnosed based on the curettage material. Subsequent imaging studies confirmed the isolated right-radius bone lesion without any other organ or tissue involvement. He received observation management with surveillance imaging every 6 months. Thirty-six months later, he was healthy, without pain, and had normal right-wrist function. CONCLUSIONS Primary osseous RDD in children is exceedingly rare and can cause diagnostic challenges. Our case serves as a reminder that despite the diagnostic challenge, keeping RDD in the differential diagnosis, especially in young patients, can avoid misdiagnosis and mismanagement.
背景 伴巨大淋巴结病的窦组织细胞增生症(也称为罗萨伊-多夫曼病[RDD])最初由罗萨伊和多夫曼于1969年发现。RDD的特征是活化的组织细胞在各种组织和器官中积聚,但最常见于淋巴结。RDD分为2种形式。较常见的形式是淋巴结型RDD,罕见形式是结外型RDD,这是基于结外组织受累情况划分的。大多数结外型RDD病例也累及淋巴结。原发性、仅累及结外的RDD很罕见,在小儿患者中极为少见。这些病例在医学文献中鲜有报道。病例报告 这名16个月大、此前健康的男孩在右手腕受伤后出现右前臂疼痛。影像学检查显示桡骨远端有侵袭性病变,并伴有相邻软组织成分。粗针组织活检提示骨髓炎。由于患者对抗生素无反应,故接受了刮除术并冲洗,以处理疑似骨髓炎。根据刮除物诊断为RDD。随后的影像学检查证实孤立的右桡骨骨病变,无任何其他器官或组织受累。他接受了观察管理,每6个月进行一次影像学监测。36个月后,他身体健康,无疼痛,右手腕功能正常。结论 儿童原发性骨RDD极为罕见,可导致诊断难题。我们的病例提醒人们,尽管存在诊断挑战,但在鉴别诊断中考虑到RDD,尤其是在年轻患者中,可避免误诊和管理不当。