[Fabry disease: systemic deposition of a glycolipid].
A 20-year-old man was admitted with telangiectatic skin lesions over the lower abdomen, buttocks and genitals and also hypohidrosis and heat intolerance. Fabry disease was diagnosed on the basis of biochemical and histopathological analyses. The concentration of urinary trihexosyl-ceramide was increased but the activity of galactosidase in serum, urine and lymphocytes was marginal. Typical lipid inclusions, showing a concentrically arranged, lamellar osmiophilic structure were identified by electron microscopy in the cytoplasm of endothelial cells from affected skin.
Sela
B A
BA
Institute of Chemical Pathology, Dermatology Dept., Tel Aviv University.
Pavlotsky
F
F
Trau
H
H
Kaplan
B
B
Polak-Charcon
S
S
Engelberg
S
S
D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D005696:Galactosidases / Q000378:metabolism; D006017:Glycolipids / Q000378:metabolism; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D014281:Trihexosylceramides / Q000652:urine
D006017:Glycolipids; D014281:Trihexosylceramides; D005696:Galactosidases