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Angiokeratoma Corporis Diffusum (Fabry Disease)A Lysosomal Disease
Ken Hashimoto, MD;
Philip Lieberman, MD;
Nelson Lamkin, Jr, MD
Arch Dermatol. 1976;112(10):1416-1423.
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  -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)
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.
Footnotes
Accepted for publication July 28, 1975.
Reprint requests to Research Service—Dermatology (151), Veterans Administration Hospital, 1030 Jefferson Ave, Memphis, TN 38104 (Dr Hashimoto).
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