Periosteal Gaucher-like cells in beta-thalassemia major

A 24-year-old Chinese woman who has undergone staged surgery for craniofacial deformity secondary to beta-thalassemia major is presented. Local clusters of Gaucher-like cells were found in the periosteum of the mandible. The histologic and ultrastructural features of these cells are described and the pathogenesis and differential diagnoses discussed. To the best of our knowledge, this is the first reported case of Gaucher-like cells occurring outside the lymphohematopoietic system in thalassemic patients.