Mazabraud’s syndrome in female patients:Two case reports  

作　　者：Xiu-Mao Li Ze-Hao Chen Ke-Yi Wang Jun-Nan Chen Zhao-Nong Yao Yu-Hong Yao Xiao-Wei Zhou Nong Lin 

机构地区：[1]Department of Orthopedics,The Second Affiliated Hospital,School of Medicine,Zhejiang University,Hangzhou 310009,Zhejiang Province,China [2]Orthopedics Research Institute,Zhejiang University,Hangzhou 310009,Zhejiang Province,China [3]State Key Laboratory of Transvascular Implantation Devices,Hangzhou 310009,Zhejiang Province,China [4]Songyang Branch of the Second Affiliated Hospital,School of Medicine,Zhejiang University,Lishui 331124,Zhejiang Province,China

出　　处：《World Journal of Orthopedics》2024年第6期593-601,共9页世界骨科杂志（英文版）

基　　金：Supported by National Natural Science Foundation of China,No.81702662.

摘　　要：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.CASE SUMMARY 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.CONCLUSION 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.

关 键 词：Mazabraud's syndrome Fibrous dysplasia Intramuscular myxoma BISPHOSPHONATE Case report 

分 类 号：R726.8[医药卫生—儿科] R758.2[医药卫生—临床医学]