angiokeratoma corporis diffusum


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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.

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.

angiokeratoma corporis diffusum

an uncommon familial disease in which glycolipids are stored in many parts of the body, especially in the venous and cardiovascular systems, causing vasomotor, urinary, and cutaneous disorders and in some cases, muscular abnormalities. Characteristic signs are dilation of blood vessels in the "bathing suit areas"; edema; hypertension; cardiomegaly, especially enlargement of the left ventricle; diffuse nodularity of the skin; albumin, erythrocytes, leukocytes, and casts in the urine; and vacuoles in muscle bundles. Also called diffuse angiokeratoma, Fabry's disease, Fabry's syndrome.
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Angiokeratoma corporis diffusum
References in periodicals archive ?
A new case of [alpha]-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation.