Dermatol. praxi. 2017;11(2):58-62 | DOI: 10.36290/der.2017.013

Fabry disease – an overview for a dermatologist

MUDr. Lukáš Lacina, Ph.D., MUDr. Ondřej Kodet, Ph.D.
Dermatovenerologická klinika 1. LF UK a VFN Praha

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.

Keywords: angiokeratoma, alpha -galactosidase, endothelium, disfunction, storage disorder, multiorgan, genetics

Published: June 1, 2017  Show citation

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Lacina L, Kodet O. Fabry disease – an overview for a dermatologist. Dermatol. praxi. 2017;11(2):58-62. doi: 10.36290/der.2017.013.
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