title: Dental observations in Gaucher's disease: review of the literature and two case reports with 13- and 60-year follow-ups.
abstract: Gaucher's disease is a genetically determined inborn error of metabolism in which acid beta-glucosidase or one of its cofactors is absent or diminished in macrophage cells and cause an accumulation of glucosylceramide in these cells. These Gaucher cells accumulate in the organs of the reticuloendothelial system and cause varying degrees of splenomegaly, hepatomegaly, and encroachment of the marrow cavity of bones. Dental radiographs often reveal consistent bony changes that result from this encroachment. In cases where visceral signs are not apparent, dental radiographs can detect the presence of the disease. Because therapy is available, early recognition of this disorder may reduce overall morbidity. A review of the dental radiographic changes over as many as 60 years shows the effects of oral surgery procedures on bone degeneration and regeneration. The effects of mannose lectin acid beta-glucosidase, alglucerase on bone deposition are discussed. Finally, a literature review shows that the changes in the dental radiograph of patients with Gaucher's disease are very specific. Currently, this disorder and its associated molecular genetics are a prototype for research of new treatments such as allogenic bone marrow transplantation and molecularly engineered enzymes.
authors.affiliation: Department of Dentistry, Albert Einstein Medical Center, Philadelphia, Pa., USA.
authors.forename: I B
authors.initials: IB
authors.lastname: Bender
authors.forename: A L
authors.initials: AL
authors.lastname: Bender
mesh_terms: D000328:Adult; D000368:Aged; D016301:Alveolar Bone Loss / Q000000981:diagnostic imaging / Q000209:etiology; D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008336:Mandibular Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D008875:Middle Aged; D010014:Osteolysis / Q000000981:diagnostic imaging / Q000209:etiology; D011859:Radiography; D012391:Root Resorption / Q000000981:diagnostic imaging / Q000209:etiology