Osteitis pubis.

Hemophilic pseudotumor is a rare, but well-known, complication of hemophilia. We describe a 50-year-old man with mild hemophilia A, but with no previous need for Factor VIII supplementation, who presented with a pathologic fracture of the right femoral neck and shaft caused by a large hemophilic pseudotumor. Initial nonoperative therapy with factor replacement and skeletal traction resulted in radiographic evidence of fracture healing, but the patient's pain persisted. Therefore, he had a radical resection of his hemophilic pseudotumor (soft tissue component and entire femur), and reconstruction with a custom total femoral replacement. Six months after resection, the patient returned to full-time employment. Although pseudotumor formation is a well-recognized complication of hemophilia, the pseudotumor in our study is one of the largest yet described. More importantly, to our knowledge this is the first report of a pseudotumor treated by radical resection and reconstruction with a custom femoral prosthesis. We think that radical resection and reconstruction with a custom total femoral prosthesis is a valuable alternative to amputation in massive pseudotumors of the femur and soft tissues of the thigh.

Bone Diseases↗

PubMed2005

Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I).

PURPOSE OF REVIEW: Enzyme therapy for lysosomal storage disorders directed at correcting the underlying cause of disease represents the most significant recent advance in patient management. This review focuses on two disease groups: glycosphingolipidoses and mucopolysaccharidoses. Specifically, Gaucher disease and Hurler-Scheie syndrome have been selected as the prototypical disorder for each respective class. RECENT FINDINGS: Musculoskeletal complications are encountered in several of the lysosomal storage disorders and often represent a major source of extraneurologic morbidity, particularly in the subacute or chronic variants. Enzyme therapy has led to improvements in physical and functional well-being. However, bone involvement remains a recalcitrant feature, especially among patients with established disease before institution of therapy. SUMMARY: Early diagnosis and appropriate timely intervention are critical in achieving the best therapeutic results. A better understanding of the fundamental mechanisms of bone pathology may enable the identification of complementary approaches (eg, the use of bisphosphonates for severe osteopenia) for optimized outcomes. Symptomatic care and rigorous physical and occupational therapy remain critical components of a comprehensive management approach.

Bone Diseases↗