Ultrastructural observations of the oral mucosa in Anderson-Fabry disease

Electron microscopic study of oral mucosa from a patient with Anderson-Fabry disease (glycosphingolipid lipidosis) revealed lamellar and membranous osmiophilic intracytoplasmic inclusions having a periodicity of 4.5 nanometers. These were observed chiefly in reticulo-endothelial cells as membrane bound and occasionally unbound bodies. They could also be observed within the cytoplasm of squamous epithelial cells, particularly of the stratum germinativum. Morphologic features in endothelial and epithelial cells are described.