A proposal for a new pathogenesis-guided classification for inherited epidermal differentiation disorders
Á. Hernández‐Martín, Amy S. Paller, Eli Sprecher, Masashi Akiyama, Céline Granier Tournier, Mandy Aldwin-Easton, Christine Bodemer, Keith A. Choate, Judith Fischer, Antoni Gostyński, Alain Hovnanian, Akemi Ishida‐Yamamoto, Edel A. O’Toole, Matthias Schmuth, Janice Schwartz, Gianluca Tadini, Joyce Teng, J. Mazereeuw‐Hautier
Abstract
The Reclassifying Epidermal Differentiation Disorders Initiative (REDDI) taskforce has introduced a pathogenesis-based classification for epidermal differentiation disorders (EDDs), to address limitations with the previous terminology. Replacing older terms, the updated classification groups EDDs by protein function and promotes genotyping, offering potential for targeted treatments. EDDs are now categorized as nonsyndromic (nEDD), syndromic (sEDD) or palmoplantar-focused (pEDD). This system supports healthcare providers, patients and caregivers in diagnosis and treatment, with the goal of improving clinical outcomes through periodic updates as new genetic insights emerge.