Cutaneous Complications of Anderson-Fabry Disease

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

Journal Name: Current Pharmaceutical Design

Volume 19 , Issue 33 , 2013

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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.

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Article Details

Year: 2013
Published on: 31 July, 2013
Page: [6031 - 6036]
Pages: 6
DOI: 10.2174/13816128113199990359
Price: $65

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