Cutaneous complications of Anderson-Fabry disease

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6 Citazioni (Scopus)

Abstract

Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the α-galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme α-galactosidase A. The consequent inability to catabolize glycosphingolipids causes progressive accumulation of globotriaosylceramide in the vascular endothelium throughout the body. Fatalities in the classical phenotype may usually occur as a consequence of cerebral, cardiac or renal disease. Dermatological manifestations are a relevant feature of Fabry disease and include angiokeratomas, telangiectasiae, lymphedema, anhidrosis or hypohidrosis and pseudo-acromegalic facial appearance. The actual causal treatment for Fabry disease is the enzyme replacement therapy. Dermatologists have a key role, since cutaneous manifestations may lead to the diagnosis. This may help an early therapeutic intervention, reducing both morbidity and mortality.
Lingua originaleEnglish
pagine (da-a)6031-6036
Numero di pagine6
RivistaCURRENT PHARMACEUTICAL DESIGN
Volume19
Stato di pubblicazionePublished - 2013

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.3000.3002???

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