背景:Mazabraud综合征(MS)是一种罕见且缓慢进展的良性疾病,其特征是同时存在骨纤维异常增生和肌内粘液瘤,并且被认为与GNAS基因的突变有关。迄今为止,文献中仅报道了约100例MS,但其标准治疗策略尚不清楚.
方法:我们报告了2例根据症状和疾病表现接受不同治疗的年轻女性MS。第一个病人,37岁,接受内固定和静脉注射双膦酸盐治疗右股骨颈病理性骨折,随后切除右股内侧粘液瘤以控制疼痛,无症状腰大肌粘液瘤未经手术监测。基因检测证实了该患者的GNAS基因突变。第二个病人,24岁,接受右股中间肌粘液瘤切除术,髂纤维发育不良的保守治疗。这些患者随访17个月和3年,分别,现在情况稳定.
结论:已经为患有不同症状的MS患者选择了各种治疗方法。粘液瘤的主要治疗方法是手术切除,而如果患者经历病理性骨折或严重疼痛,则选择性治疗纤维发育不良。然而,鉴于已记录的MS患者中纤维发育不良的恶性转化实例,密切跟进是必要的。
BACKGROUND: Mazabraud\'s syndrome (MS) is a rare and slowly progressive benign disease characterized by the concurrent presence of fibrous dysplasia of bone and intramuscular myxoma, and is thought to be associated with mutations of the GNAS gene. To date, only about 100 cases of MS have been reported in the literature, but its standard treatment strategy remains unclear.
METHODS: We report two cases of MS in young women who underwent different treatments based on their symptoms and disease manifestations. The first patient, aged 37, received internal fixation and intravenous bisphosphonate for a pathological fracture of the right femoral neck, excision of a right vastus medialis myxoma was subsequently performed for pain control, and asymptomatic psoas myxomas were monitored without surgery. Genetic testing confirmed a GNAS gene mutation in this patient. The second patient, aged 24, underwent right vastus intermedius muscle myxoma resection, and conservative treatment for fibrous dysplasia of the ilium. These patients were followed-up for 17 months and 3 years, respectively, and are now in a stable condition.
CONCLUSIONS: Various treatments have been selected for MS patients who suffer different symptoms. The main treatment for myxomas is surgical resection, while fibrous dysplasia is selectively treated if the patient experiences pathological fracture or severe pain. However, given the documented instances of malignant transformation of fibrous dysplasia in individuals with MS, close follow-up is necessary.