Abstract
Fabry disease (also referred as Fabry-Andrerson disease, alpha-galactosidase A deficiency, ceramide-trihexosidase deficiency, OMIM 301500) is a rare genetic disease, which was described more than one century ago (1898) based on typical clinical manifestation. The very first name "angiokeratoma corporis diffusum" was coined due to the most visible cutaneous manifestation.
However, this is not the only and exclusive dermatological feature in this condition. Early and correct recognition of symptoms of multi-systemic disease might have and direct impact on life of patient.
Similarly to several other monogenic diseases, the defective gene product can be replaced by recombinant enzymes.