Angiocheratoma corporis diffusum with normal enzyme activities.
A female case of angiokeratoma corporis diffusum without systemic involvement, with alpha-galactosidase A activity in the normal range, alpha-L-fucosidase in the lower levels of the normal range, and a few amount of urinary sialic acid is reported. Some problem about differential diagnosis with inherited disorders as Fabry's disease, fucosidosis, sialidosis is discussed. Although cases of angiokeratoma corporis diffusum without any underlying enzyme defect have been reported, we believe that angiokeratoma corporis diffusum is always related to known or unknown enzymatic defect, which activities could result in the normal range probably in relation to enzymatic polymorphism.
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Sezione di Dermatologia Sperimentale, University of Palermo, Italy.
Noto
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D000293:Adolescent; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics; D005260:Female; D006801:Humans