title: Histology and electron microscopy of fucosidosis of the skin. Subtle clues to diagnosis by electron microscopy.
abstract: Fucosidosis is an autosomal recessive inborn error of metabolism in which fucose-containing glycolipids, glycoproteins, and oligo- and polysaccharides accumulate in tissues as a consequence of alpha-L-fucosidase deficiency. Since the detection of this entity in 1966 several cases have been described, but until now investigations of clinically uninvolved skin have not been performed. In this study we have investigated clinically normal skin obtained from a patient with fucosidosis and his healthy sister, by light and electron microscopy, to determine whether normal skin in this condition yields clues that may have prognostic relevance. We found "empty"- appearing storage vesicles in melanocytes, endothelial cells, sweat glands, and fibroblasts in the skin.
authors.affiliation: Department of Dermatology/Division of General Dermatology, University of Vienna, Austria.
authors.forename: F
authors.initials: F
authors.lastname: Breier
authors.forename: G
authors.initials: G
authors.lastname: Hobisch
authors.forename: S
authors.initials: S
authors.lastname: Fang-Kircher
authors.forename: F
authors.initials: F
authors.lastname: Braun
authors.forename: E
authors.initials: E
authors.lastname: Paschke
authors.forename: W
authors.initials: W
authors.lastname: Jurecka
mesh_terms: D002675:Child, Preschool; D004730:Endothelium, Vascular / Q000648:ultrastructure; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D005645:Fucosidosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D005808:Genes, Recessive; D006017:Glycolipids / Q000378:metabolism; D006023:Glycoproteins / Q000378:metabolism; D006801:Humans; D008297:Male; D008544:Melanocytes / Q000648:ultrastructure; D008854:Microscopy, Electron; D009844:Oligosaccharides / Q000378:metabolism; D011134:Polysaccharides / Q000378:metabolism; D011379:Prognosis; D012867:Skin / Q000378:metabolism / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D013545:Sweat Glands / Q000648:ultrastructure; D014617:Vacuoles / Q000648:ultrastructure; D005644:alpha-L-Fucosidase / Q000172:deficiency
chemical_list: D006017:Glycolipids; D006023:Glycoproteins; D009844:Oligosaccharides; D011134:Polysaccharides; D005644:alpha-L-Fucosidase