School of Podiatric Medicine Publications and Presentations
Document Type
Poster
Publication Date
7-2025
Abstract
Introduction: Mazabraud Syndrome is a rare benign condition characterized by polyostotic fibrous dysplasia and intramuscular myxomas. Due to its overlapping radiographic features, it is frequently misdiagnosed. We present a case where Mazabraud Syndrome was misdiagnosed as Paget’s disease for nearly 6 decades.
Case Presentation: A 59-year-old woman presented to the podiatry clinic with complaints of numbness and sharp pain of the left foot while in stance. Her surgical history is positive for numerous lower extremity myxomas excised over her lifetime, beginning in adolescence, and now with non-mobile soft tissue mass at the porta pedis of the left foot for 1 month.
She has a complicated history of low-energy pathologic fractures of the femur and tibia, and lytic, expansile changes of the metatarsal shafts (2,5), predisposing her to fracture.
Notably, she has a history of precocious puberty at age 3, irregular menses from 12-18, polycystic ovaries, breast cancer, and back stiffness. She has bilateral osseous irregularity with course trabeculae, highly dysplastic, pronounced long-bone bowing and metatarsus adductus.
Discussion: Her existing diagnoses did not factor in intramuscular myxomas with osseous fibrous dysplasia, thus lab testing was performed, ruling out Paget’s disease, McCune-Albright syndrome, Neurofibromatosis, and thyroid disease to narrow therapeutic diagnosis. Further workup and routine monitoring are planned for this patient.
Conclusion: Foot and ankle practitioner should be aware of rare conditions like Mazabraud’s Syndrome, which has low incidence, and only ~100 published cases worldwide. Early identification, especially in the presence of soft tissue masses, is critical surgical planning and oncologic management. Given the risk of recurrence and malignant transformation, heightened awareness improves patient outcomes.
Recommended Citation
Higham, Michael; Campbell, Stephanie; and Killeen, Amanda, "Beyond the Bone: A Misdiagnosis of Paget’s Disease Reveals Polyostotic Mazabraud Syndrome" (2025). School of Podiatric Medicine Publications and Presentations. 115.
https://scholarworks.utrgv.edu/sopm_pub/115
ORCID
0000-0002-4425-4921, 0000-0002-8461-9139
Academic Level
faculty
