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 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 ?
1 Fabry's disease is also known as Anderson Fabry's disease, Angiokeratoma Corporis diffusum universal and Morbus Fabry.
Angiokeratoma corporis diffusum (Universale) Fabry, as a sign of an unknown internal disease: two autopsy reports.
Abstract Angiokeratoma corporis diffusum (ACD) is a variety of angiokeratoma, characterized by diffuse cutaneous hyperkeratotic vascular lesions.
Angiokeratoma, angiokeratoma corporis diffusum, lysosomal enzyme deficiency.
Ocular manifestations in angiokeratoma corporis diffusum (Fabry).
Other types of angiokeratomas include angiokeratoma of Mibelli, angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma corporis diffusum (Fabry's disease).
Fabry's disease, or angiokeratoma corporis diffusum, is an X-linked recessive disease related to a deficiency in alpha-galactosidase A.
Anderson publica la primera descripcion del angiokeratoma corporis diffusum en The British Journal of Dermatology (Figura 4).
Los datos sobre la vinculacion entre el locus Xg y el locus angiokeratoma corporis diffusum sugieren que estos dos genes pueden ser mensurables en distancia el uno del otro con la mejor estimacion de la fraccion de recombinacion (23) (Figura 9).
A new case of [alpha]-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation.
Abstract Angiokeratoma corporis diffusum (ACD) is a rare clinical type of angiokeratoma and has been reported, mostly, in association with various life threatening conditions, of which Fabry disease is the most known.
Angiokeratoma corporis diffusum (ACD) has often been considered pathognomonic of Fabry disease.