Angiokeratoma: a cutaneous marker of Fabry's disease.
The initial symptoms of Fabry's disease (FD) may seem harmless and may delay its diagnosis. A survey and screening for FD were performed on men with biopsy-proven angiokeratoma and some of their relatives (n = 29). Three patients were identified. Dermatologists should be aware of this prominent early feature and investigate unexplained cutaneous vascular lesions to detect FD.
Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, FMUSP, São Paulo, Brazil. lilian.albano@icr.usp.br
L M J
LM
Albano
C
C
Rivitti
D R
DR
Bertola
R S
RS
Honjo
S V
SV
Kelmann
R
R
Giugliani
C A
CA
Kim
D000328:Adult; D000794:Angiokeratoma / Q000235:genetics / Q000473:pathology*; D001706:Biopsy; D002648:Child; D000795:Fabry Disease / Q000235:genetics / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*; D055815:Young Adult