Incidental diagnosis of Mazabraud syndrome presenting as a lower extremity soft tissue mass: A case report and literature review

Hannia Isabel Cortez Marquina ¹, Joab Rafael Galvan Bustillos ², Jean Enrique Pierzo Morales ¹

⁰American British Cowdray Medical Center, 154 Carlos Graef Fernandez Av, Central Tower, medical office 515, Mexico City 05300, Mexico.

International Journal of Surgery Case Reports +

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November 13, 2024

View abstract on PubMed

Summary

Mazabraud's syndrome, a rare condition of fibrous bone dysplasia and intramuscular myxomas, requires prompt diagnosis and surgical resection for symptomatic cases. Long-term follow-up is crucial to prevent recurrence of these rare tumors.

Area Of Science

Orthopedics and Musculoskeletal Disorders
Rare Diseases
Surgical Oncology

Background

Mazabraud's syndrome is characterized by the coexistence of fibrous bone dysplasia and intramuscular myxomas.
This rare condition has an estimated incidence of 1:1,000,000, often leading to delayed diagnosis.
Early recognition and management are essential for optimal patient outcomes.

Observation

A 46-year-old female presented with a rapidly growing, painless gluteal mass.
MRI revealed an intramuscular myxoma and incidental contralateral fibrous dysplasia.
Surgical resection of the myxoma achieved clear margins with preservation of healthy muscle tissue.

Findings

Pathology confirmed the intramuscular myxoma, and the patient experienced a rapid postoperative recovery.
The case highlighted unique features including a solitary myxoma with contralateral fibrous dysplasia.
Complete resection with clear margins is critical for managing Mazabraud's syndrome.

Implications

Surgical intervention is indicated for symptomatic Mazabraud's syndrome to prevent recurrence.
Careful preoperative planning and meticulous surgical technique are vital for successful outcomes.
Long-term surveillance is necessary due to the potential for late recurrence of myxomas.

Keywords:

Case report Fibrous dysplasia Intramuscular myxoma Mazabraud's syndrome Soft-tissue mass