angiokeratoma corporis diffusum

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 error of metabolism" >inborn error of metabolism of glycolipids characterized by purpuric skin lesions (angiokeratomas); see also fabry's disease.

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. Synonym(s): angiokeratoma corporis diffusum, diffuse angiokeratoma, glycolipid lipidosis

单词	angiokeratoma corporis diffusum
释义	angiokeratoma corporis diffusum 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 error of metabolism" >inborn error of metabolism of glycolipids characterized by purpuric skin lesions (angiokeratomas); see also fabry's disease. Fa·bry dis·ease (fah'brē), [MIM301500] 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. Synonym(s): angiokeratoma corporis diffusum, diffuse angiokeratoma, glycolipid lipidosis
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