Angiokeratoma corporis diffusum (Fabry disease). A lysosomal disease

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Abstract
Angiokeratoma corporis diffusum (Fabry disease) is an X-linked recessive disease. A heterozygous female patient with angiokeratoma and cornea verticillata is described. The patient''s serum .alpha.-galactosidase activity was reported to be about 50% of normal. Skin lesion biopsy specimens were stained with EM acid phosphatase (ACP), with proper controls. Acid phosphatase activity was demonstrable within membrane-bound inclusions of cutaneous vascular endothelial cells. The accumulation of abnormal glycolipids in the vascular cells may occur in the lysosomes.