Skin ultrastructural findings in type 2 Gaucher disease: Diagnostic implications

► We explored the diagnostic utility of epidermal changes in distinguishing type 2 Gaucher disease. ► Electron microscopy was performed on skin from 25 patients with Gaucher disease. ► Only patients with type 2 Gaucher disease had distinct ultrastructural alterations. ► These epidermal changes provide an early tool to help identify type 2 Gaucher disease.