McCune-Albright综合征患者的颅面纤维发育不良和动脉瘤样骨囊肿。病例报告及文献复习

Julián Castro Castro , Juan Manuel Villa Fernández , Jesús Patricio Agulleiro Díaz
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摘要

麦库恩-奥尔布赖特综合征(MAS)是一种罕见的异质性遗传病,其特征是多发性纤维发育不良(FD)、咖啡斑(CAL)和多种高功能内分泌疾病。一般来说,它是临床诊断的。从三合会中,有2个发现足以做出诊断。颅面纤维发育不良是一个用于描述纤维发育不良的术语,局限于颅面骨骼,在MAS患者中很常见。动脉瘤性骨囊肿(ABC)是一种罕见的非肿瘤性骨病变,主要累及长骨和椎骨,可能很少发生在颅面骨。ABCs可能作为继发性骨病变与各种良性和恶性骨肿瘤以及纤维发育不良有关。发生在颅面FD的继发性ABC极为罕见。我们介绍了一例21岁的患者,该患者在我们的中心接受了与MAS相关的右眼眶动脉瘤样骨囊肿的治疗,并对相关文献进行了综述。
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Craniofacial fibrous dysplasia and aneurismal bone cyst in a patient with McCune-Albright syndrome. A case report and review of the literature

McCune-Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies. In general, it is diagnosed clinically. From the triads, 2 of the findings are enough to make the diagnosis.

Craniofacial fibrous dysplasia is a term that is used to describe the fibrous dysplasia, which was localized at the craniofacial skeleton and is common in MAS patients.

Aneurysmal bone cyst (ABC) is a rare non-neoplastic bone lesion that involves mostly the long bones and vertebrae and may occur very rarely in the craniofacial bones. ABCs may occur as secondary bony pathologies in association with various benign and malignant bone tumors and with fibrous dysplasia. Secondary ABC occurring in craniofacial FD is extremely rare. We present the case of a 21-year-old patient treated at our center for a right orbital aneurysmal bone cyst associated with MAS and provide a review of the relevant literature.

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