Gaucher's disease affecting the mandible and maxilla

Jaws Features in Type 1 Gaucher Disease

“…Some authors suggested that, similar to other bones, the mandible, which is considered a long bone, is affected more frequently than is the maxilla, which is a membranous bone. 26 The presented review of the published Gaucher cases involving the jaw within the past 3 decades suggests 2 types of bone abnormalities with discrete pathophysiology and presentation, ie, the generalized osteopenia and the well-defined lesion. The most prevalent phenomenon is a generalized rarefaction of bone trabeculae, similar to the rarefaction related to other chronic anemia states such as thalassemia and sickle cell disease, caused by bone marrow hyperplasia and abnormal hematopoiesis.…”

“…27 However, Hall et al reported complete healing after debridement of a Gaucher defect in the mandible, which was stable at a 2-year follow-up. 22 According to the reviewed radiological features associated with jaw lesions, differential diagnosis of the gnathic changes in Gaucher disease is wide and includes bone marrow defects, 26 thalassemia, and sickle cell disease 27 for generalized osteopenia. Some authors suggested that the radiographic features may sometimes resemble multiple myeloma or cancerous spread.…”

“…31 Thus, 10 articles in which 35 Gaucher patients were reported were analyzed. 13,[22][23][24]26,27,30,[32][33][34] The demographic characteristics and radiological features of the included articles are presented in Table 2.…”

“…The only published case series is that of 28 patients from the Jerusalem Shaare Zedek cohort, whose panoramic radiographs were reported by Carter et al 13 Later, Fischman et al 25 described the dental health of 87 Gaucher patients, but they did not describe the radiographic findings. Reviews of the literature regarding oral manifestations of Gaucher patients published by Schwartz et al, 23 Lustmann et al, 26 and Bender and Bender 27 and included 9 to 16 cases. However, in all of these reports, there was sparse information on the radiological features of Gaucher lesions in the jaws.…”

Literature Review: Dental Aspects in Gaucher Disease

“…Generalized osteopenia. Bildman et al (1972) reported establishing the diagnosis of Gaucher disease after a biopsy of mandibular medulla tissue; others confirmed Gaucher disease based on the presence of Gaucher cells in mandible biopsies (Lustmann et al, 1991). However, it should be emphasized that jaw biopsy in Gaucher disease is not recommended unless another condition is suspected (for example, malignancy).…”