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[Mazabraud syndrome].

J L Martínez-Peniche¹, L A Harfush-Nasser¹, Y Fernández de Lara-Barrera²

¹Ortopedia y Traumatología. Centro Médico ABC. México.

Acta Ortopedica Mexicana

|November 3, 2021

Summary

Mazabraud syndrome links bone fibrodysplasia with intramuscular myxomas. This case report confirms this rare association, highlighting the importance of recognizing this distinct clinical entity.

Keywords:

Fibrodysplasia Mazabraud muscle myxoma treatment

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Area of Science:

Medical Science
Pathology
Genetics

Background:

Mazabraud syndrome is a rare condition characterized by the coexistence of fibrous dysplasia of bone and intramuscular myxomas.
First described in 1926, the syndrome's defining features were later elucidated by Mazabraud et al. in 1967.

Observation:

A 43-year-old female patient with a history of fibrous dysplasia presented with a mass in her right antecubital fossa.
Histopathological examination confirmed the mass to be an intramuscular myxoma.

Findings:

The patient's presentation and subsequent tumor analysis support the established association between fibrous dysplasia and intramuscular myxomas.
This case reinforces the diagnostic criteria for Mazabraud syndrome.

Implications:

Recognizing Mazabraud syndrome is crucial for accurate diagnosis and management of patients with both bone and soft tissue abnormalities.
Further research into the underlying pathophysiology may reveal shared genetic or molecular pathways.
This case contributes to the existing literature, aiding in the understanding of this rare disorder.