Mazabraud Syndrome: A Case Report With 23 Years of Follow-Up

Area of Science:

• Endocrinology and Metabolism
• Orthopedics
• Radiology

Background:

• Mazabraud syndrome is a rare genetic disorder characterized by the co-occurrence of fibrous dysplasia (FD) and intramuscular myxomas.
• Fibrous dysplasia involves the replacement of normal bone with fibrous tissue, leading to bone deformities and fractures.
• Intramuscular myxomas are benign tumors typically found in skeletal muscle.

Observation:

• A 46-year-old woman with a history of polyostotic fibrous dysplasia since age 23 developed an intramuscular myxoma in her left arm 15 years later.
• Over two decades, she experienced the development of additional intramuscular myxomas.
• The patient opted for conservative management of symptomatic FD, declining surgical intervention for soft tissue lesions.

Findings:

• Radiologic imaging, including MRI and ultrasound, was instrumental in diagnosing Mazabraud syndrome and tracking disease progression.
• The case highlights the coexistence of fibrous dysplasia and multiple intramuscular myxomas in a single patient.
• Both fibrous dysplasia and intramuscular myxomas are benign musculoskeletal conditions.

Implications:

• This case emphasizes the importance of vigilant, long-term follow-up for patients diagnosed with fibrous dysplasia.
• Early detection of intramuscular myxomas in FD patients is critical for diagnosing Mazabraud syndrome.
• Monitoring lesion progression is essential due to the rare possibility of malignant transformation.