• 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 α-galactosidase activity was reported to be about 50% of normal. Skin lesion biopsy specimens were stained with electron microscopic acid phosphatase (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.
(Arch Dermatol 112:1416-1423, 1976)
Hashimoto K, Lieberman P, Lamkin N. Angiokeratoma Corporis Diffusum (Fabry Disease)A Lysosomal Disease. Arch Dermatol. 1976;112(10):1416–1423. doi:10.1001/archderm.1976.01630340034009