1. [Skin Lesion in Fabry Disease].
- Author
-
Tsuboi K and Kanzaki T
- Subjects
- Humans, Skin pathology, alpha-Galactosidase, Fabry Disease complications, Skin Diseases complications
- Abstract
Fabry disease is an inborn error metabolisms caused by deficiency of α-galactosidase A activity, and results in glycolipid accumulation of in multiple tissues or organs. Skin lesions occurred in Fabry disease are characterized by angiokeratoma, including acroparesthesia or hypohydrosis, among others. There are important characteristics for the diagnosis of Fabry disease.
- Published
- 2019
- Full Text
- View/download PDF