Dermatologic Aspects of Fabry Disease
J. inborn errors metab. screen
;
4: e160007, 2016. tab, graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1090884
ABSTRACT
Abstract Isolated angiokeratomas (AKs) are common cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse AKs should alert the physician to a possible diagnosis of Fabry disease (FD). Angiokeratomas often do not appear until adolescence or young adulthood. The number of lesions and the extension over the body increase progressively with time, so that generalization and mucosal involvement are frequent. Although rare, FD remains an important diagnosis to consider in patients with AKs, with or without familial history. Dermatologists must have a high index of suspicion, especially when skin features are associated with other earlier symptoms such as acroparesthesia, hypohidrosis, or heat intolerance. Once the diagnosis is established, prompt screening of family members should be performed. In all cases, a multidisciplinary team is necessary for the long-term follow-up and treatment.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2016
Tipo de documento:
Artigo
País de afiliação:
Argentina
Instituição/País de afiliação:
Hospital Alemán/AR
/
Hospital General de Agudos J. M. Ramos Mejia/AR
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