Cutaneous Complications of Anderson-Fabry Disease

Title:Cutaneous Complications of Anderson-Fabry Disease

Volume: 19 Issue: 33

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

Affiliation:

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

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.

Cite this article as:

Pistone Giuseppe, Rizzo Daniele and Bongiorno Rita Maria, Cutaneous Complications of Anderson-Fabry Disease, Current Pharmaceutical Design 2013; 19 (33) . https://dx.doi.org/10.2174/13816128113199990359