A Mazabraud’s syndrome: the rare coexistence of fibrous dysplasia and intramuscular myxoma. A case repot

Mazabraud’s syndrome is a rare, benign skeletal disorder characterized by the coexistence of fibrous dysplasia and intramuscular myxoma. Genetic factors have been implicated in its aetiology. Although not widely recognized among clinicians and radiologists, Mazabraud Syndrome is present in approximately 2% of fibrous dysplasia cases. We present the case of a 40-year-old female who presented with swelling and pain in her left shoulder. Radiological evaluation with X-ray and contrast-enhanced MRI revealed findings consistent with fibrous dysplasia and an intramuscular myxoma. The diagnosis of intramuscular myxoma was confirmed histopathologically through biopsy. Clinicians should consider the possibility of this syndrome when evaluating patients with fibrous dysplasia, especially when soft tissue lesions are present.

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Publication Details

Journal
Chirurgia Narządów Ruchu i Ortopedia Polska
Published
2025-09-15
DOI
https://doi.org/10.31139/chnriop.2025.90.3.4
Primary Topic
Bone Tumor Diagnosis and Treatments
Type
article
Field-Weighted Citation Impact
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article

A Mazabraud’s syndrome: the rare coexistence of fibrous dysplasia and intramuscular myxoma. A case repot

Ezel Yaltırık Bilgin, Elif Aktaş, Erkan Bilgin
Chirurgia Narządów Ruchu i Ortopedia Polska
Bone Tumor Diagnosis and Treatments
article

A Mazabraud’s syndrome: the rare coexistence of fibrous dysplasia and intramuscular myxoma. A case repot

Ezel Yaltırık Bilgin, Elif Aktaş, Erkan Bilgin
article en

Abstract

Mazabraud’s syndrome is a rare, benign skeletal disorder characterized by the coexistence of fibrous dysplasia and intramuscular myxoma. Genetic factors have been implicated in its aetiology. Although not widely recognized among clinicians and radiologists, Mazabraud Syndrome is present in approximately 2% of fibrous dysplasia cases. We present the case of a 40-year-old female who presented with swelling and pain in her left shoulder. Radiological evaluation with X-ray and contrast-enhanced MRI revealed findings consistent with fibrous dysplasia and an intramuscular myxoma. The diagnosis of intramuscular myxoma was confirmed histopathologically through biopsy. Clinicians should consider the possibility of this syndrome when evaluating patients with fibrous dysplasia, especially when soft tissue lesions are present.

Chirurgia Narządów Ruchu i Ortopedia PolskaVol. 90(3)
Openalex Percentile: Top 59%
Bone Tumor Diagnosis and Treatments
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A Mazabraud’s syndrome: the rare coexistence of fibrous dysplasia and intramuscular myxoma. A case repot — Ezel Yaltırık Bilgin, Elif Aktaş, et al. · Chirurgia Narządów Ruchu i Ortopedia Polska (2025) | TGRS Research Map | TGRS