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  • Title: Angiokeratoma corporis diffusum (Fabry disease). A lysosomal disease.
    Author: Hashimoto K, Lieberman P, Lamkin N.
    Journal: Arch Dermatol; 1976 Oct; 112(10):1416-23. PubMed ID: 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.
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