Gaucher disease is an autosomal recessive systemic lysosomal storage disorder that is panethnic but with higher prevalence in the Ashkenazi Jewish population. The disease is caused by a defect in the housekeeping gene lysosomal glucocerebrosidase on the first chromosome (1q22) [
1]. Accumulation of lipid-laden macrophages in the reticuloendothelial system due to the deficiency of glucocerebrosidase enzyme causes the characteristic clinical features of Gaucher disease and results in the characteristic appearance of affected cells: an enlarged granular cytoplasm and round displaced nuclei [
2].
Infiltration of Gaucher cells in tissues can be associated with systemic pathology such as hepatosplenomegaly, pancytopenia, skin pigmentation, neurologic symptoms, osteoporosis and severe bone pain [
3]. Oral pathology can also be observed in Gaucher disease, and includes jaw lesions, delayed eruption of permanent teeth, oral yellow pigmentation, hyposalivation, dental pain and mobility, sinusitis, and osteomyelitis [
4]. Bone involvement in Gaucher disease is seen in more than 90% of affected patients [
4]. Long bone involvement is common, causing pain and restriction of mobility [
5]. Craniofacial bones may also be affected, although more rarely reported. Jawbones have been described as being affected by Gaucher disease, and various radiographic features have been reported in the mandible (which is more commonly affected than the maxilla) such as soap-bubble or pseudocystic radiolucent lesions in the premolar-molar regions, loss of trabecularity, widening of bone marrow spaces, endosteal scalloping and loss of lamina dura around affected teeth [
6]. Jawbones may also demonstrate generalized osteopenia and well-defined radiolucent lesions, with the resulting loss of cortication of the mandibular canal and sinus obliteration, bone expansion, and cortical perforation [
4]. In some cases, apical root resorption is seen and might be related to accumulation of Gaucher cells in the apical region of teeth [
7]. Importantly, jawbone involvement in Gaucher disease is usually asymptomatic [
3,
4].
Given the potential association with teeth, the clinical nonspecific presentation of pain, and the aforementioned radiographic features which could represent several odontogenic or non-odontogenic conditions, a diagnosis of Gaucher disease involving the jawbone can be diagnostically challenging and may warrant biopsy for definitive diagnosis. Only a few reports in the literature provide definite diagnosis of jawbone involvement by Gaucher disease as confirmed by biopsy rather than clinical and radiographic findings alone [
4,
8‐
14]. We report a unique case of Gaucher disease with jawbone involvement confirmed by biopsy.