UCSF

Osteopetrosis comprises a rare, heterogeneous group of heritable conditions that are characterized by a defect in bone resorption by osteoclasts. We report the case of a 53-year-old woman with previously undiagnosed osteopetrosis who presented with a pathologic proximal humeral fracture secondary to pleomorphic sarcoma, which is previously undescribed in the English literature. Management of the primary lesion necessitated ablative surgery, but the malignancy nonetheless was associated with rapidly progressive metastatic disease.