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

Fabio Vescini, Alberto Falchetti, Veronica Tonelli, Maria Carpentieri, Claudia Cipri, Roberta Cosso, Elda Kara, Vincenzo Triggiani, Franco Grimaldi

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)885-893
Number of pages9
JournalEndocrine, Metabolic and Immune Disorders - Drug Targets
Volume19
Issue number6
DOIs
Publication statusPublished - 2019

Keywords

  • Aged
  • Diagnosis, Differential
  • Female
  • Fibrous Dysplasia of Bone/complications
  • Humans
  • Italy
  • Muscle Neoplasms/complications
  • Myxoma/complications
  • Syndrome
  • Tomography, X-Ray Computed

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