Northwestern University, Feinberg School of Medicine, Department of Otolaryngology-Head and Neck Surgery, Chicago, IL.
Georgetown University-School of Medicine.
J Craniofac Surg. 2022 Sep 1;33(6):1787-1790. doi: 10.1097/SCS.0000000000008437. Epub 2021 Dec 16.
Fibrous dysplasia (FD) is an uncommon bone disease characterized by the replacement of normal bone architecture with abnormal fibro-osseous connective tissue. Here, we discuss 2 cases of craniofacial FD, with malignant sarcomatous degeneration - a rare and morbid complication of the disease.
Two cases of craniofacial FD with malignant degeneration are presented. In the first, a 68-year-old male with a history of FD presented with acutely worsening left-sided facial pain and V2 and V3 hypoesthesia. Imaging findings suggested a large infratemporal fossa mass with biopsy demonstrating sarcomatous degeneration. Radical craniofacial resection achieved a gross total resection with likely microscopic disease. The patient was unable to tolerate adjuvant chemotherapy or radiation and succumbed to his disease 13 months following surgery.In the second case, a 36-year-old male with McCune-Albright Syndrome and craniofacial FD presented with acutely worsening left-sided headaches and midface hypoesthesia. Imaging revealed a heterogenous and expansile lesion with erosive changes in the left nasal cavity and infratemporal fossa. Pathology was suggestive of low grade sarcomatous degeneration. Given the extensive involvement of the skull base, the tumor was deemed unresectable, and the patient soon died following initiation of chemotherapy.
Malignant sarcomatous transformation is a rare and challenging complication of craniofacial FD. Indolent onset, advanced spread at time of presentation, and close relationship with vital neurovascular structures are all hurdles for the treating clinician. The entity poses a diagnostic dilemma, as pathological analysis can be equivocal and may mimic nonmalignant processes, such as locally aggressive FD.
纤维结构不良（FD）是一种不常见的骨骼疾病，其特征是正常骨结构被异常纤维骨性结缔组织所取代。在这里，我们讨论了 2 例颅面 FD 伴恶性肉瘤样变性——该疾病的一种罕见且病态的并发症。
呈现了 2 例伴恶性转化的颅面 FD 病例。在第一个病例中，一位 68 岁男性，有 FD 病史，表现为左侧面部疼痛急剧恶化，V2 和 V3 感觉减退。影像学发现提示为大型颞下窝肿块，活检显示为肉瘤样变性。根治性颅面切除术实现了大体全切除，可能存在显微镜下疾病。患者无法耐受辅助化疗或放疗，在手术后 13 个月死于疾病。在第二个病例中，一位 36 岁男性，患有 McCune-Albright 综合征和颅面 FD，表现为左侧头痛急剧恶化和中面部感觉减退。影像学显示为不均匀和膨胀性病变，伴有左侧鼻腔和颞下窝侵蚀性改变。病理提示低度肉瘤样变性。由于颅底广泛受累，肿瘤被认为无法切除，患者在开始化疗后不久死亡。
恶性肉瘤样转化是颅面 FD 的一种罕见且具有挑战性的并发症。发病时起病隐匿、广泛扩散以及与重要的神经血管结构密切相关，这些都是治疗医生面临的障碍。该疾病存在诊断难题，因为病理分析可能存在模棱两可，并可能模仿非恶性过程，如局部侵袭性 FD。
