title: [Angiokeratoma corporis diffusum (Fabry's disease). Update. Apropos of 2 cases].
abstract: Fabry's disease (angiokeratoma corporis diffusum) is an X-linked recessive inherited metabolic defect due to the lack of the enzyme alpha-galactosidase A. We reviewed the Argentine literature on the subject, the main features of the disease and its differential diagnosis. Two patients aged ten and fifteen are described showing the characteristic clinical picture of the disease since ages four and nine respectively. Skin and conjunctival ultrastructural studies showed intracytoplasmatic granules with a lamellar appearance in the endothelial cells, pericytes and fibroblasts. Plasma levels of alpha-galactosidase activity were sharply decreased in the two patients studied and partially decreased in their heterozygous mothers.
mesh_terms: D000293:Adolescent; D000328:Adult; D000794:Angiokeratoma / Q000175:diagnosis; D002648:Child; D003228:Conjunctiva / Q000473:pathology; D003594:Cytoplasmic Granules / Q000032:analysis; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D005260:Female; D005645:Fucosidosis / Q000175:diagnosis; D005696:Galactosidases / Q000172:deficiency*; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis; D010873:Pinocytosis; D012867:Skin / Q000648:ultrastructure; D014960:X Chromosome; D000519:alpha-Galactosidase / Q000097:blood
chemical_list: D005696:Galactosidases; D000519:alpha-Galactosidase
vernacular_title: Angioqueratoma "corporis diffusum" (enfermedad de Fabry). Actualización. Apropós de dos casos.