Delay Alexandra, Varazzani Andrea, Bouland Cyril, Brochet Louis, Bouletreau Pierre, Cousin Anne-Sabine
Department of oral and maxillo-facial surgery, University Hospital Lyon Sud, Lyon, France.
Oral Maxillofac Surg. 2025 Oct 23;29(1):184. doi: 10.1007/s10006-025-01486-5.
This report aims to present a case of temporomandibular joint (TMJ) ankylosis in a patient with Neurofibromatosis type 1 (NF1). It is a rare but significant long-term complication of NF1-associated craniofacial dysplasia, potentially aggravated by prior orthognathic surgery.
The patient, a 58-year-old woman with NF1 developed complete left TMJ ankylosis 14 years after bimaxillary surgery. The patient had a neurofibroma involving the mandibular branch (V3) of the trigeminal nerve, with fatty atrophy of the ipsilateral masticatory muscles. Clinical examination revealed marked facial asymmetry, severe trismus with a maximal mouth opening of 10 mm and tilting of the occlusal plane. Imaging studies confirmed ankylosis and extensive craniofacial bone dysplasia. Management was conducted in two surgical stages. The first involved resection of the ankylotic mass and placement of a temporary spacer. The second included orthognathic surgery and insertion of a custom-made TMJ prosthesis. Postoperative assessment showed improved mouth opening to 32 mm, with satisfactory aesthetic and functional outcomes.
NF1 is a genetic disorder characterized by a wide spectrum of systemic manifestations, including craniofacial skeletal anomalies. Although mandibular deformities are commonly observed in patients with facial plexiform neurofibromas, TMJ ankylosis is a rare and poorly documented complication. It underscores the need for individualized surgical planning and long-term surveillance in NF1 patients with facial neurofibromas and skeletal deformities. Clinicians should maintain a high index of suspicion for progressive joint pathology in NF1 patients. Early recognition and proactive management are essential to prevent irreversible joint damage. To our knowledge, this represents the first documented case of true TMJ ankylosis associated with NF1, confirmed both radiologically and surgically.
Not applicable.
本报告旨在呈现1例1型神经纤维瘤病（NF1）患者发生颞下颌关节（TMJ）强直的病例。这是NF1相关颅面发育异常罕见但严重的长期并发症，既往正颌手术可能使其加重。
该患者为一名58岁患有NF1的女性，在双颌手术14年后出现左侧TMJ完全强直。患者有一个累及三叉神经下颌支（V3）的神经纤维瘤，同侧咀嚼肌脂肪萎缩。临床检查发现明显的面部不对称、严重牙关紧闭，最大开口度为10毫米，咬合平面倾斜。影像学检查证实强直及广泛的颅面骨发育异常。治疗分两个手术阶段进行。第一阶段包括切除强直块并放置临时间隔物。第二阶段包括正颌手术及植入定制的TMJ假体。术后评估显示开口度改善至32毫米，美学和功能结果均令人满意。
NF1是一种具有广泛全身表现的遗传性疾病，包括颅面骨骼异常。虽然面部丛状神经纤维瘤患者常见下颌畸形，但TMJ强直是一种罕见且记录较少的并发症。这凸显了对患有面部神经纤维瘤和骨骼畸形的NF1患者进行个体化手术规划和长期监测的必要性。临床医生应对NF1患者进行性关节病变保持高度怀疑。早期识别和积极管理对于预防不可逆的关节损伤至关重要。据我们所知，这是首例经影像学和手术证实的与NF1相关的真正TMJ强直病例。
不适用。
