Generic placeholder image

Current Pharmaceutical Design

Editor-in-Chief

ISSN (Print): 1381-6128
ISSN (Online): 1873-4286

Cutaneous Complications of Anderson-Fabry Disease

Author(s): Giuseppe Pistone, Daniele Rizzo and Maria Rita Bongiorno

Volume 19, Issue 33, 2013

Page: [6031 - 6036] Pages: 6

DOI: 10.2174/13816128113199990359

Price: $65

Abstract

Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the -galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme -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.

Keywords: Fabry disease, angiokeratoma, telangiectasiae, lymphedema, anhidrosis, hypohidrosis, pseudo-acromegalic facial appearance.


Rights & Permissions Print Cite
© 2024 Bentham Science Publishers | Privacy Policy