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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