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

[ Vol. 19 , Issue. 6 ]

Author(s):

Fabio Vescini*, Alberto Falchetti, Veronica Tonelli, Maria Carpentieri, Claudia Cipri, Roberta Cosso, Elda Kara, Vincenzo Triggiani and Franco Grimaldi   Pages 885 - 893 ( 9 )

Abstract:


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.

Affiliation:

Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine, EndOsmet, Villa Donatello Private Hospital, 50100 Florence, Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine, Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine, Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine, EndOsmet, Villa Donatello Private Hospital, 50100 Florence, Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine, Interdisciplinary Department of Medicine-Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, University of Bari "Aldo Moro", School of Medicine, 70100 Bari, Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine

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