Cutaneous manifestations of Fabry disease: A systematic review.

ABSTRACT: Fabry disease (FD) is a rare X-linked lysosomal storage disorder resulting in potential debilitating accumulation of glycosphingolipids in organs such as skin, nerves, heart, kidneys, lungs, and the central nervous system. Skin is easily investigated and can guide clinicians to diagnose FD, minimizing delay of enzyme substitution therapy. This systematic review followed the PICO and PRISMA guidelines. Using Web of Science, PubMed, and Embase, a total of 968 studies were retrieved by January 1, 2024. All clinical studies describing the skin characteristics and abnormalities of FD patients were included. After inclusion of articles, the methodological quality was assessed using the QUADAS-2 critical appraisal checklist. Twenty-three studies were included. Different skin manifestations were d

SUBMITTER: Al-Chaer RN 

PROVIDER: S-EPMC11975216 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature