Clinical and radiological evaluation of dentomaxillofacial involvement in Type I Gaucher disease

Objectives This study aimed to evaluate the oral findings and dentomaxillofacial involvement of patients diagnosed with Type I Gaucher Disease (GD), and to compare these findings with the control group. Methods A total of 32 patients, 5 males, and 11 females in both the study (range 19–60, mean age 34.56) and control group (range 18–49, mean age 34.63) were included in the study. The file records of all patients obtained in the first evaluation were examined, and the hematological, visceral, and bone examination findings were recorded. Subsequently, oral examinations were performed for oral findings and dentomaxillofacial involvement, and radiological examinations were performed in panoramic images and cone-beam computed tomography (CBCT) images. Results There was mandible involvement in 9 (56.3%), and involvement in both jaws in 4 (25.0%) of the patients with Type I GD. According to the CBCT findings, generalized rarefaction in 10 (62.5%) patients, enlarged marrow spaces in 12 (75.0%) patients, thinning of the lamina dura in 10 (62.5%) patients, and loss in the cortical borders of the mandibular canal in 7 (43.8%) patients were among the common radiographic findings. When the control and study group were compared, in panoramic images, a significant difference was found in terms of generalized rarefaction and enlarged marrow spaces, while significant differences were found in CBCT images regarding generalized rarefaction, enlarged marrow spaces, loss in the cortical margins of the mandibular canal and widening in the periodontal ligament space. Conclusions The roadmap for the diagnosis of Gaucher lesions in the jawbones includes a comprehensive medical history and a clinical and radiological examination. In conclusion, dentists should be familiar with the dentomaxillofacial findings of GD and be aware of possible oral and dental complications that may develop.