Angiokeratoma corporis diffusum (Fabry disease). A lysosomal disease.
Arch Dermatol, 1976/10;112(10):1416-23.
Hashimoto K, Lieberman P, Lamkin N Jr
PMID: 183606
Abstract
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.
MeSH terms
Acid Phosphatase; Adult; Corneal Diseases; Fabry Disease; Female; Histocytochemistry; Humans; Inclusion Bodies; Lysosomes; Microscopy, Electron; Skin
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