Dermatol. praxi. 2019;13(2):103-106 | DOI: 10.36290/der.2019.016

Morbus Fabry – skin and soft‑tissue manifestations

MUDr. Gabriela Dostálová, Ph.D.

Centrum pro Fabryho nemoc

II. interní klinika – kardiologie a angiologie VFN a 1. LF UK

Fabry disease (FD, OMIM 301500) or Fabry-Anderson disease, is a rare, X chromosome-linked progressive lysosomal storage disease. Mutations in the GLA gene are resposible for deficiency of alpha-galactosidase A (alpha-gal A), which is the cause of the accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (Gb3), within various tissue types. The disease brings on variety of neurologic, renal, cardiovascular, ophthalmologic or dermatologic symptoms. The disease can manifests at any age from early childhood to late aduthood. A precise cooperation of a multidisciplinary team is necessary for an early diagnosis of Fabry disease, with dermatologist representing a crucial part of such teams.

Keywords: Fabry disease, soft‑tissue manifestations, angiokeratomas, sweating abnormalities, lymphoedema

Published: June 10, 2019  Show citation