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    Clin Exp Dermatol. 2010 Jul;35(5):505-8. Epub 2009 Oct 19.

    Angiokeratoma: a cutaneous marker of Fabry's disease.

    Source

    Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, FMUSP, São Paulo, Brazil. lilian.albano@icr.usp.br

    Abstract

    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.

    PMID:
    19843083
    [PubMed - indexed for MEDLINE]

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