[Mazabraud syndrome].

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.