Fucosidosis with angiokeratoma. Electron microscopic changes in the skin.
An electron microscopic investigation was performed on the skin from three patients suffering from fucosidosis accompanied by diffuse angiokeratoma. Storage of fucose containing substances was represented by the following two kinds of cytosomes: lamellated bodies, found in Schwann cells and myoepithelial cells of sweat glands and membrane-bound vacuoles, located in various other cellular elements of the skin. Storage in endothelial cells caused narrowing or occlusion of some dermal blood vessels; in the papillary plexus, angiectasis was the result. Extensive vacuolation of the secretory cells of sweat glands could account for hypohydrosis. The characteristic distribution of cytosomes in various kinds of cells is helpful in differentiating fucosidosis from some other storage diseases on the basis of skin biopsy.
D000293:Adolescent; D000794:Angiokeratoma / Q000150:complications* / Q000235:genetics / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D004186:Disaccharidases / Q000172:deficiency*; D006801:Humans; D008297:Male; D012583:Schwann Cells / Q000648:ultrastructure; D012867:Skin / Q000648:ultrastructure*; D013545:Sweat Glands / Q000648:ultrastructure; D014617:Vacuoles / Q000648:ultrastructure; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D004186:Disaccharidases; D005644:alpha-L-Fucosidase