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.
Albano
L M J
LM
Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, FMUSP, São Paulo, Brazil. lilian.albano@icr.usp.br
Rivitti
C
C
Bertola
D R
DR
Honjo
R S
RS
Kelmann
S V
SV
Giugliani
R
R
Kim
C A
CA
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