[Angiokeratoma corporis diffusum universale (Fabry disease)].
Fabry's disease (Angiokeratoma corporis diffusum) is a rare X-chromosome linked recessive disorder belonging to the group of sphingolipoidoses. The basic defect involves the gene encoding alpha-galactosidase. Because this enzyme is responsible for decomposition of glycosphingolipids, its deficiency results in their accumulation in endothelial and smooth muscle cells. With time, generalized angiokeratomas, paresthesias, renal and cardiac insufficiency and cerebrovascular complications develop. We report a patient who in addition to the well-described findings also showed unique nail fold capillary changes not described so far. Analysis of serum concentration of alpha-galactosidase identified three female heterozygous carriers in the patient's family.
Frank
J
J
Abteilung Dermatologische Phlebologie, Rheinisch-Westfälischen Technischen Hochschule, Aachen.
Jansen-Genzel
W
W
Lentner
A
A
Wienert
V
V
D000328:Adult; D002196:Capillaries / Q000473:pathology; D004730:Endothelium, Vascular / Q000473:pathology; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009262:Nails / Q000098:blood supply; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome; D000519:alpha-Galactosidase / Q000235:genetics
D000519:alpha-Galactosidase