Angiokeratoma corporis diffusum (Fabry disease). A lysosomal disease.
Angiokeratoma corporis diffusum (Fabry disease) is an X-linked recessive disease. We had an opportunity to examine a heterozygous female patient with angiokeratoma and cornea verticillata. The patient's serum alpha-galactosidase activity was reported to be about 50% of normal. Skin lesion biopsy specimens were stained with electron microscopic acid phsophatase (ACP), with proper controls. Acid phosphatase activity was demonstrable within membrane-bound inclusions of cutaneous vascular endothelial cells. This suggested that the accumulation of abnormal glycolipids in the vascular cells occurs in the lysosomes.
D000135:Acid Phosphatase / Q000378:metabolism; D000328:Adult; D003316:Corneal Diseases / Q000150:complications; D000795:Fabry Disease / Q000150:complications / Q000201:enzymology / Q000473:pathology*; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D008247:Lysosomes / Q000648:ultrastructure*; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology / Q000648:ultrastructure*
D000135:Acid Phosphatase