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Mazabraud's Syndrome - A Diagnosis Commonly Missed
1Central Institute of Orthopaedics, Vardhmaan Mahavir Medical College and Safdarjang Hospital, New Delhi, India.
Journal of Orthopaedic Case Reports
|September 28, 2019
Summary
Mazabraud's syndrome, a rare condition linking intramuscular myxomas and fibrous dysplasia, often goes undiagnosed. This case highlights the importance of suspecting this syndrome in patients with recurrent soft tissue swelling.
Area of Science:
- Rare diseases
- Endocrinology
- Oncology
Background:
- Mazabraud's syndrome is a rare benign disorder.
- It is characterized by intramuscular myxomas and fibrous dysplasia.
- Higher incidence may be expected due to silent nature and missed diagnosis.
Observation:
- A 39-year-old lady presented with recurrent soft tissue myxomas in her thigh.
- Radiographs and MRI aided in diagnosing Mazabraud's syndrome.
- The patient had asymptomatic swellings detected on MRI.
Findings:
- The patient was treated with wide excision of the recurrent thigh swelling.
- Bisphosphonate therapy was administered for fibrous dysplasia.
- The patient remained asymptomatic with no recurrence at 2-year follow-up.
Implications:
- Highlights the importance of high clinical suspicion for Mazabraud's syndrome.
- Crucial for managing patients with recurrent soft tissue swelling.
- Both myxomas and fibrous dysplasia behave differently when occurring together.
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