Mandibular and dental manifestations of Gaucher disease

Abstract

Gaucher disease is a systemic lysosomal storage disorder with a high prevalence among Ashkenazi Jews. It is caused by an inherited deficiency of the lysosomal enzyme glucocerebrosidase. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, and skeletal involvement. Oral and dental manifestations are less commonly seen. These manifestations are often asymptomatic, although they may be detected by routine dental x-rays. There are several case reports and a few larger series published describing patients with Gaucher disease who have mandibulo-maxillofacial involvement. This review aims to examine the oral manifestations observed in Gaucher disease and to suggest practical guidelines for dealing with these often worrisome signs. Among the critical issues are the benign nature of Gaucher cell infiltration of the mandible and the critical importance of being prepared for postprocedure bleeding and/or infections. Therefore, it is essential that dental practitioners be aware of the possible oral and dental complications of Gaucher disease, as well as the available treatment modalities.

Figure 1

Figure 1a: Serial presentation of CT findings of the upper jaw and teeth, showing normal appearance of alveolar and cancellous bone (arrow). Figure 1b: Serial presentation of CT findings of the lower jaw and teeth, showing normal appearance of alveolar bone (upper arrow) but no trabecular bone although the cortical bone is intact (lower arrow); There appears to be a demarcation line where the teeth end and below which the bone is ‘hollow’. There is apparent root resorption on the lower anterior teeth and blunting of the roots on the lower first molars bilaterally.

Figure 1

Figure 1a: Serial presentation of CT findings of the upper jaw and teeth, showing normal appearance of alveolar and cancellous bone (arrow). Figure 1b: Serial presentation of CT findings of the lower jaw and teeth, showing normal appearance of alveolar bone (upper arrow) but no trabecular bone although the cortical bone is intact (lower arrow); There appears to be a demarcation line where the teeth end and below which the bone is ‘hollow’. There is apparent root resorption on the lower anterior teeth and blunting of the roots on the lower first molars bilaterally.

Figure 2

panel a: Large areas of translucency in mandible bilaterally (arrows) probably due to Gaucher cell infiltration with cortical bone preserved; panel b right side: horizontal slice showing preservation of bone between teeth (arrow); panel c: view of the right and left lower jaw showing normal cortical bone.