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The following is a summary of “Cutaneous manifestations of Fabry disease: A systematic review,” published in the March 2025 issue of Journal of Dermatology by Al-Chaer et al. 

Fabry disease (FD) was identified as a rare X-linked lysosomal storage disorder causing potentially debilitating glycosphingolipid buildup in various organs.  

Researchers conducted a retrospective study to evaluate the role of skin examination in diagnosing FD and reducing delays in enzyme replacement therapy.  

They followed the PICO and PRISMA guidelines. A total of 968 studies were retrieved from Web of Science, PubMed, and Embase by January 1, 2024. Clinical studies describing skin characteristics and abnormalities in individuals with FD were included. After selecting articles, the methodological quality was evaluated using the QUADAS-2 critical appraisal checklist.  

The results showed that 23 studies described various skin manifestations of FD. Angiokeratomas were reported in 15 studies, telangiectasias in 5, sweat abnormalities (anhidrosis/hypohidrosis/hyperhidrosis) in 13, lymphoedema in 9, and hair abnormalities in 2. Sweat abnormalities were the most prevalent, affecting 57.6% of individuals with FD, while angiokeratomas were observed in 51.5%. A study with 5487 individuals reported a 16.5% prevalence of lymphoedema. Skin involvement increased with age. Quality assessment indicated a high or unclear risk of bias in 19 of 23 studies. Data on skin manifestations in 10,757 individuals with FD were summarized.  

Investigators concluded that the underlying causes of sweat abnormalities and variable skin lesions in FD remained unclear, enzyme replacement therapy often failed to improve skin issues, and outcome reporting inconsistencies hindered study comparisons. 

Source: onlinelibrary.wiley.com/doi/10.1111/1346-8138.17690