ANGIOKERATOMA CORPORIS DIFFUSUM ( FABRY ) - HISTOCHEMICAL AND ELECTRON MICROSCOPIC STUDIES OF SKIN

[摘要] In a case of angiokeratoma corporis diffusum, examination of cutaneous lesions by electron microscope revealed dense bodies with a distinct structure in endothelial cells, smooth muscel cells, peri-vascular cells and fibrocytes. That these bodies were lysosomes was suggested by their morphology and by their positive staining with acid phosphatase stains, with Sudan black B and with the PAS reaction. It was observed that they developed by the merging of pinocytotic vesicles and storage granules, formed phagosomes, accumulated indigestible lipid-protein complexes to become digestive vacuoles, and finally, formed myelin figures in the residual body. Acid phosphatase stains adapted to electron microscopy revealed a positive enzyme reaction in cytoplasmic vacuoles, probably storage granules or phagosomes, and in the large bodies representing digestive vacuoles. It appears possible that the enormously engorged lysosomes are formed on the basis of a genetic deficiency of lysosomal enzymes essential for the digestion of phospholipoproteins.