Manifestation of angiokeratoma diffusum in a girl patient with heterozygous genotype for Fabry disease.
The case of a 16 years old girl patient having angiokeratoma corporis diffusum with Fabry heterozygosity is published together with the clinical and genetical screening investigations of the family members. The problem of the detection of the heterozygotes is discussed.
László
A
A
Paediatric Department, Medical University Szeged, Hungary.
Török
L
L
Havass
Z
Z
Bartos
Z
Z
D000293:Adolescent; D000328:Adult; D002648:Child; D003315:Cornea / Q000473:pathology; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005260:Female; D005696:Galactosidases; D002517:Galactosylgalactosylglucosylceramidase / Q000172:deficiency*; D006579:Heterozygote; D006801:Humans; D007668:Kidney / Q000473:pathology; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D012867:Skin / Q000473:pathology
D005696:Galactosidases; D002517:Galactosylgalactosylglucosylceramidase