Yadav Sandeep Kumar, Rajnish Rajesh Kumar, Aggarwal Aakarsh, Gupta Saurabh, Elhence Abhay, Chithira Anju G
Department of Orthopaedics, All India Institute of Medical Sciences Jodhpur, Rajasthan, India.
Department of Pathology and Lab Medicine, All India Institute of Medical Sciences Jodhpur, Rajasthan, India.
J Orthop Case Rep. 2024 Dec;14(12):66-72. doi: 10.13107/jocr.2024.v14.i12.5022.
Osteochondroma, a common benign bone tumor, predominantly affects young individuals, with a higher prevalence in males. It typically manifests as a bony growth capped with cartilage near bone growth plates, often extending away from joints. While most cases are asymptomatic, some may present with pain, swelling, or mechanical complications necessitating surgical intervention. Recent research implicates genetic mutations, particularly in the EXT-1 gene, in osteochondroma development, with homozygous EXT1 deletion commonly found in sporadic cases.
A 15-year-old girl presented to out patient department with recurrent osteochondroma in the distal tibia, an unusual location, with complications such as fibular deformation and ankle varus deformity. Initial surgery was performed elsewhere through an anterolateral approach, but the patient experienced persistent pain and serous discharge from the surgical scar. Examination revealed an unhealed scar with a discharging sinus and a firm, bony swelling on the left lower leg, along with a reduced range of motion. X-ray and MRI confirmed a pedunculated mass emerging from the distal tibial metaphysis, causing extraneous compression and deformity of the fibula without intraosseous infiltration. Histopathological examination of the resected specimen confirmed osteochondroma recurrence. Surgical management involved en bloc resection of the tumor and perichondrium through a posterolateral approach, with subsequent debridement of the previous surgical wound. Post-operative recovery was uneventful. Literature review indicates that observation is suitable for asymptomatic lesions, while symptomatic cases or those with concerning imaging findings may require surgery. Complications following surgical excision are reported, with recurrence rates ranging from 2% to 11.6%, highlighting the importance of complete resection to minimize relapse and risk of malignant transformation. Careful consideration is warranted in pediatric cases to prevent growth plate damage.
Osteochondroma management involves tailored surgical intervention based on symptoms and imaging findings, with complete resection recommended to optimize outcomes and minimize recurrence, particularly in pediatric patients.
骨软骨瘤是一种常见的良性骨肿瘤，主要影响年轻人，男性患病率更高。它通常表现为在骨生长板附近有软骨覆盖的骨性隆起，常远离关节生长。虽然大多数病例无症状，但有些可能会出现疼痛、肿胀或机械性并发症，需要手术干预。最近的研究表明基因突变，特别是EXT-1基因的突变，与骨软骨瘤的发生有关，散发性病例中常见纯合子EXT1缺失。
一名15岁女孩因胫骨远端复发性骨软骨瘤前来门诊，该部位不常见，伴有腓骨变形和踝内翻畸形等并发症。最初在其他地方通过前外侧入路进行了手术，但患者仍持续疼痛，手术切口有浆液性渗出。检查发现手术切口未愈合，有排液窦道，左小腿有坚硬的骨性肿胀，活动范围减小。X线和磁共振成像（MRI）证实有一个带蒂肿物从胫骨远端干骺端长出，导致腓骨受压和畸形，但无骨髓内浸润。切除标本的组织病理学检查证实为骨软骨瘤复发。手术治疗包括通过后外侧入路整块切除肿瘤及软骨膜，随后对先前的手术伤口进行清创。术后恢复顺利。文献综述表明，对于无症状的病变观察是合适的，而有症状的病例或影像学表现可疑的病例可能需要手术。手术切除后有并发症的报道，复发率在2%至11.6%之间，突出了完全切除以尽量减少复发和恶性转化风险的重要性。在儿科病例中需要仔细考虑以防止生长板损伤。
骨软骨瘤的治疗包括根据症状和影像学表现进行个体化手术干预，建议完全切除以优化治疗效果并尽量减少复发，特别是在儿科患者中。
