Oral Aspects of Gaucher's Disease: A Literature Review and Case Report

Abstract

Periodontal treatment can be effective in patients with GD. Oral findings may lead to early detection of GD, especially in the absence of clinical symptoms. Dentists should be aware of possible oral and radiographic manifestations of the disease and the role of periodontal treatment in improving patient's oral health and quality of life.

Dentomaxillofacial manifestations of Gaucher's disease: preliminary clinical and radiographic findings

“…1,4,5,7,9,10 The most relevant radiographic manifestations included generalized bone rarefaction, enlarged marrow spaces, cortical thinning, osteoesclerosis, radiolucent pseudocystic lesions, demineralization of the mental region, effacement of anatomical structures and the maxillary sinus and TMJ involvement, which is in agreement with several studies. 1,3,4,5,7,9 Panoramic radiographs revealed mandible changes in all cases and maxillary complications in eight. In CBCT, manifestations were observed in the mandible in all samples and in the maxilla in six, with no cases of maxillary involvement alone.…”

“…Haematological thrombocytopenia was present in six of the ten patients, but none of them reported prior episodes of bleeding, as had been previously described. 9 Only two individuals complained of bone pain, demonstrating the asymptomatic feature of the disease, as mentioned in other studies. 8,9 However, the presence of pain, generalized rarefactions and pseudocystic areas adjacent to the periapical region of the maxillofacial complex should be taken into account when diagnosing this disease, and that makes it important to disseminate these findings, especially when pain is not related to periapical lesions.…”

“…7,8 During the study, all patients were being treated with ERT, as in most other studies. 4,7,9 Clinical and radiographic findings varied greatly in the sample. Some clinical data showed no correlation with radiographic images; this is probably owing to the numerous phenotypic manifestations of Type I disease, a fact also reported in the literature.…”

“…Some clinical data showed no correlation with radiographic images; this is probably owing to the numerous phenotypic manifestations of Type I disease, a fact also reported in the literature. 8,9 According to literature findings, 2,3,10 the disease is characterized by the classical triad of visceral enlargement (liver and/or splenomegaly), haematological changes and a high incidence of bone changes. Visceral enlargement and haematological changes were present in seven cases.…”

Jaws Features in Type 1 Gaucher Disease

“…[21][22][23] The potential indirect manifestations are oral manifestations of anemia (eg, candidiasis and glossitis) and bleeding tendency (eg, gingival bleeding and petechia). 17,24 Oral manifestations of Gaucher disease were published mostly in case reports rather than in large-scale studies. 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.…”