Jaws features in type 1 Gaucher disease

Purpose: Our aims were to present 2 new cases of Gaucher disease involving the jaws and to review the literature. Materials and Methods: Two new cases and the literature from 1982-2011 were reviewed. Results: Ten articles describing 35 cases (for a total of 37 with 2 new cases presented) were analyzed. The mandible and maxilla were affected in 97.3% and 24.3% of the reported cases, respectively. Generalized rarefaction of bone (osteopenia) was present in 83.8%, and well-defined radiolucent lesions in 40.5%. The effects on the surrounding structures included loss of cortication of the mandibular canal (56.7%), cortical bone thinning (27%), expansion, root resorption (24.3%), mandibular canal displacement (18.9%), cortical perforation, maxillary sinus obliteration, and tooth displacement (10.8%). Conclusions: Two distinct bone abnormalities with separate pathophysiologies, radiographic presentation, and effects on the surrounding structures are suggested: 1) generalized mandibular/maxillary osteopenia and 2) a well-defined radiolucent lesion, which appears only in the mandible. This review refutes 2 accepted assumptions; according to the results, 1) the most common manifestation is generalized osteopenia (and the resulting mandibular canal changes), whereas the well-defined radiolucent lesion is the next most common, and 2) cortical bone thinning/perforations and lamina dura thinning are not uncommon in these patients.