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October 1976

Angiokeratoma Corporis Diffusum (Fabry Disease): A Lysosomal Disease

Author Affiliations

From the Division of Dermatology, Memphis Veterans Administration Hospital (Dr Hashimoto), and the Division of Dermatology (Dr Hashimoto) and the Division of Allergy-Immunology (Drs Lieberman and Lamkin), Department of Medicine, The University of Tennessee Center for the Health Sciences, Memphis.

Arch Dermatol. 1976;112(10):1416-1423. doi:10.1001/archderm.1976.01630340034009

• 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)

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