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 post-procedure 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.

Jaws Features in Type 1 Gaucher Disease

“…27 Given that jaw involvement in Gaucher is asymptomatic, no treatment is indicated and a follow-up is sufficient. 17 As previously mentioned, partial reversal of mandibular changes may be achieved by enzyme replacement therapy. 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.…”

“…41 Recently, Saranjam et al comprehensively reviewed Gaucher manifestations in the mandible and dental tissue. 17 According to these authors, the most common radiographic observation in an affected mandible is the presence of "pseudocystic" or honeycombed radiolucent lesions, and the cortical bone remains intact. However, the present review refutes these 2 conventions; according to our results, 1) the most prevalent manifestation in the jaws is generalized osteopenia (and the resulting effacement/displacement of the mandibular canal), whereas the well-defined radiolucent lesion is the next most prevalent phenomenon; and 2) cortical bone thinning and perforations, as well as lamina dura thinning, are not uncommon in these patients.…”

“…1 Oral manifestations of Gaucher disease are jaw lesions, delayed eruption of permanent teeth (ie, a discrepancy between chronologic and dental ages), oral yellow pigmentation, and decreased salivary flow. [13][14][15][16][17] Although the reduced salivary flow probably has no clinical significance, 18 Shvidel et al reported 2 cases of xerostomic Gaucher patients who developed highgrade non-Hodgkin lymphoma in the parotid salivary gland. 19 Elad et al described a case of Gaucher disease with tongue amyloidosis; the patient eventually died because of macroglossia-related asphyxia.…”

“…[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.…”

Manifestations of systemic diseases and conditions that affect the periodontal attachment apparatus: Case definitions and diagnostic considerations

“…The oral manifestations of Gaucher disease (GD) are often detected during routine dental radiographic examinations. 32 These include loss of alveolar bone trabecular architecture, widening of bone marrow spaces, and presence of honeycomb-shaped radiolucent lesions, mainly in the premolar and molar regions. A few studies have reported periodontitis affecting individuals with GD.…”