Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Breier, F; Hobisch, G; Fang-Kircher, S; Braun, F; Paschke, E; Jurecka, W.
Histology and electron microscopy of fucosidosis of the skin. Subtle clues to diagnosis by electron microscopy.
AMER J DERMATOPATHOL. 1995; 17(4): 379-383.
Doi: 10.1097/00000372-199508000-00013
(- Case Report)
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Paschke Eduard
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Child, Preschool -
- Endothelium, Vascular - ultrastructure
- Fatal Outcome - ultrastructure
- Female - ultrastructure
- Fibroblasts - ultrastructure
- Fucosidosis - genetics
- Genes, Recessive - genetics
- Glycolipids - metabolism
- Glycoproteins - metabolism
- Humans - metabolism
- Male - metabolism
- Melanocytes - ultrastructure
- Microscopy, Electron - ultrastructure
- Oligosaccharides - metabolism
- Polysaccharides - metabolism
- Prognosis - metabolism
- Skin - metabolism
- Skin Diseases - genetics
- Sweat Glands - ultrastructure
- Vacuoles - ultrastructure
- alpha-L-Fucosidase - deficiency
- Find related publications in this database (Keywords)
- Fucosidosis
- Lysosomal Storage Disease
- Electron Microscopy
- Histopathology
- Skin