angiokeratoma
[an″je-o-ker″ah-to´mah]a dermatosis marked by telangiectasia with secondary epithelial changes, including acanthosis and hyperkeratosis.
Facial rash of angiokeratoma in a male with tuberous sclerosis. From Mueller and Young, 2001.
angiokeratoma cor´poris diffu´sum an inborn error of metabolism of glycolipids characterized by purpuric skin lesions (angiokeratomas); see also fabry's disease.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
Fa·bry dis·ease
(fah'brē), [MIM*301500]disease due to deficiency of α-galactosidase and characterized by abnormal accumulations of neutral glycolipids (for example, globotriaosylceramide) in endothelial cells in blood vessel walls. Clinical findings include angiokeratomas on the thighs, buttocks, and genitalia; hypohidrosis; paresthesia in the extremities, cornea verticillata, and spokelike posterior subcapsular cataracts. Death results from renal, cardiac, or cerebrovascular complications; X-linked recessive inheritance caused by mutation of the α-galactosidase gene (GLA) on Xq.
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