Arch Dermatol. 1976 Oct;112(10):1416-23.

Angiokeratoma corporis diffusum (Fabry disease). A lysosomal disease.

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.

PMID:: 183606; [PubMed - indexed for MEDLINE]

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Acid Phosphatase

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Ultrastructure of lipid bodies and lysosomes in the skin in Fabry's disease (angiokeratoma corporis diffusum). [Arch Belg Dermatol Syphiligr. ...]
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Cited by 1 PubMed Central article

Angiokeratoma corporis diffusum without impairment of renal function. [J R Soc Med. 1980]
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