Literature DB >> 19843083

Angiokeratoma: a cutaneous marker of Fabry's disease.

L M J Albano1, C Rivitti, D R Bertola, R S Honjo, S V Kelmann, R Giugliani, C A Kim.   

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.

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Year:  2009        PMID: 19843083     DOI: 10.1111/j.1365-2230.2009.03721.x

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN: 0307-6938            Impact factor:   3.470


  2 in total

1.  Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

Authors:  Dawn A Laney; Robin L Bennett; Virginia Clarke; Angela Fox; Robert J Hopkin; Jack Johnson; Erin O'Rourke; Katherine Sims; Gerald Walter
Journal:  J Genet Couns       Date:  2013-07-17       Impact factor: 2.537

2.  Genital angiokeratoma in a woman with Fabry disease: the dermatologist's role.

Authors:  Patricia Moraes Resende de Jesus; Ana Maria Martins; Nilton Di Chiacchio; Carolina Sanchez Aranda
Journal:  An Bras Dermatol       Date:  2018-06       Impact factor: 1.896

  2 in total

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