Dermatological manifestations of Anderson-Fabry disease

Abstract

Dermatological manifestations are an important feature of Fabry disease and include angiokeratomas, telangiectases, lymphedema, anhidrosis or hypohidrosis, and a pseudo-acromegalic facial appearance. Recognition of these symptoms is vital for the early diagnosis and treatment of Fabry disease. It is therefore important that dermatologists as well as other specialists are aware of these manifestations. The currently used causal treatment for Fabry disease is enzyme replacement therapy. Dermatologists play a key role, since cutaneous manifestations may lead to the diagnosis. This may aid in early therapeutic intervention, reducing both morbidity and mortality.