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Endocrine, Metabolic & Immune Disorders - Drug Targets


ISSN (Print): 1871-5303
ISSN (Online): 2212-3873

Case Report

Mazabraud's Syndrome: A Case Report and Up-To-Date Literature Review

Author(s): Fabio Vescini*, Alberto Falchetti, Veronica Tonelli, Maria Carpentieri, Claudia Cipri, Roberta Cosso, Elda Kara, Vincenzo Triggiani and Franco Grimaldi

Volume 19, Issue 6, 2019

Page: [885 - 893] Pages: 9

DOI: 10.2174/1871530319666181226103700


Objective: Mazabraud's syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. Fibrous dysplasia, is generally localized to pelvis and femur and it results in a fragile bone with deformities, pain, pathological fractures and functional impairment. Intramuscular myxomas, are rare benign mesenchymal neoplasms that exceptionally may evolve to malignant forms.

Methods: This case report describes a 66-year-old woman with Mazabraud’s Syndrome (MS), characterized both by monostotic right femur fibrous dysplasia and by a solitary intramuscular myxoma at the right quadriceps muscle, that underwent a long-term treatment (4 years) with intravenous zoledronic acid.

Results: Zoledronic acid therapy rapidly lowered bone pain together with a reduction of intramuscular myxoma volume, but did not affect the extension of fibrous dysplasia. No adverse effects have been observed during treatment.

Conclusion: Highly active bisphosphonates are commonly used for the treatment of bone metabolic disorders and they are generally well tolerated. Zoledronic acid may represent a promising alternative to surgical intervention in MS, although its use in rare form of bone fibrous dysplasias is still controversial.

Keywords: Mazabraud's syndrome, fibrous dysplasia, intramuscular myxoma, zoledronic acid, GNAS1 gene mutations, benign mesenchymal neoplasms.

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Graphical Abstract
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