Angiokeratoma corporis diffusum in a patient with normal enzyme activities.
A 34-year-old man is described with angiokeratoma corporis diffusum. This eruption was once thought to be diagnostic of Anderson-Fabry disease; however, recent studies have shown that it may also occur in the enzyme disorders fucosidosis and sialidosis. In our patient with widespread angiokeratomas, the results of enzyme studies were normal, and there were no systemic problems or significant family history. Our case demonstrates that angiokeratoma corporis diffusum can occur in a benign form without systemic features.
D000328:Adult; D000795:Fabry Disease / Q000201:enzymology*; D005347:Fibroblasts / Q000032:analysis; D006026:Glycoside Hydrolases / Q000032:analysis*; D006801:Humans; D007962:Leukocytes / Q000032:analysis; D008297:Male; D009439:Neuraminidase / Q000032:analysis; D012016:Reference Values; D005644:alpha-L-Fucosidase / Q000032:analysis; D001617:beta-Glucosidase / Q000032:analysis
D006026:Glycoside Hydrolases; D009439:Neuraminidase; D001617:beta-Glucosidase; D005644:alpha-L-Fucosidase