Li XM, Chen ZH, Wang KY, Chen JN, Yao ZN, Yao YH, Zhou XW, Lin N. Mazabraud’s syndrome in female patients: Two case reports. World J Orthop 2024; 15(6): 593-601 [PMID: 38947265 DOI: 10.5312/wjo.v15.i6.593]
Corresponding Author of This Article
Nong Lin, MD, Chief Doctor, Department of Orthopedics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88 Jiefang Road, Hangzhou 310009, Zhejiang Province, China. linnong@zju.edu.cn
Research Domain of This Article
Orthopedics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Xiu-Mao Li, Ze-Hao Chen, Ke-Yi Wang, Jun-Nan Chen, Zhao-Nong Yao, Yu-Hong Yao, Xiao-Wei Zhou, Nong Lin, Department of Orthopedics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, Zhejiang Province, China
Xiu-Mao Li, Ze-Hao Chen, Ke-Yi Wang, Orthopedics Research Institute, Zhejiang University, Hangzhou 310009, Zhejiang Province, China
Xiu-Mao Li, State Key Laboratory of Transvascular Implantation Devices, Hangzhou 310009, Zhejiang Province, China
Jun-Nan Chen, Songyang Branch of the Second Affiliated Hospital, School of Medicine, Zhejiang University, Lishui 331124, Zhejiang Province, China
Co-first authors: Xiu-Mao Li and Ze-Hao Chen.
Author contributions: All authors contributed to the study conceptualization and design; Material preparation and data collections were conducted by Li XM, Chen ZH, Chen JN, Yao ZN, Yao YH, and Zhou XW; Data integration was performed by Li XM, Chen ZH, and Lin N; Literature search was conducted by Li XM and Lin N; The first draft of the manuscript was written by Li XM and Wang KY, and critically revised by Lin N; All authors commented on previous versions of the manuscript and all authors read and approved the final manuscript.
Supported byNational Natural Science Foundation of China, No. 81702662.
Informed consent statement: Informed written consent was obtained from each patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Nong Lin, MD, Chief Doctor, Department of Orthopedics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, No. 88 Jiefang Road, Hangzhou 310009, Zhejiang Province, China. linnong@zju.edu.cn
Received: January 31, 2024 Revised: May 14, 2024 Accepted: May 24, 2024 Published online: June 18, 2024 Processing time: 133 Days and 21.7 Hours
Abstract
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.
Core Tip: Mazabraud’s syndrome (MS) is a rare, slowly progressive disorder characterized by the coexistence of fibrous dysplasia and intramuscular myxoma. Here, we present two rare young female patients with MS, for whom different treatment strategies such as internal fixation, tumor resection and intravenous bisphosphonate were chosen based on their respective clinical manifestations. To date, only about 100 cases of MS have been reported in the literature, and their standard treatment strategy remains unclear. In view of the fact that this disorder is not well understood, we also systematically reviewed the literature on the managements of this disease.
