A proposal for a new pathogenesis-guided classification for inherited epidermal differentiation disorders
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.
Authors
- Á. Hernández‐Martín (ORCID: https://orcid.org/0000-0001-7260-8718)
- Joyce Teng (ORCID: https://orcid.org/0000-0002-1633-6807)
- Alain Hovnanian (ORCID: https://orcid.org/0000-0003-3412-7512)
- Amy S. Paller (ORCID: https://orcid.org/0000-0001-6187-6549)
- Janice Schwartz (ORCID: https://orcid.org/0000-0002-7676-2082)
- Gianluca Tadini (ORCID: https://orcid.org/0000-0003-1164-2802)
- Judith Fischer (ORCID: https://orcid.org/0000-0003-0398-7720)
- Eli Sprecher (ORCID: https://orcid.org/0000-0002-4093-1032)
- Akemi Ishida‐Yamamoto (ORCID: https://orcid.org/0000-0002-3104-102X)
- J. Mazereeuw‐Hautier (ORCID: https://orcid.org/0000-0001-6259-9790)
- Keith A. Choate (ORCID: https://orcid.org/0000-0003-1010-6354)
- Matthias Schmuth (ORCID: https://orcid.org/0000-0002-4064-1334)
- Antoni Gostyński (ORCID: https://orcid.org/0000-0002-1091-2914)
- Céline Granier Tournier (ORCID: https://orcid.org/0000-0002-6274-0341)
- Edel A. O’Toole (ORCID: https://orcid.org/0000-0002-4084-4836)
- Masashi Akiyama (ORCID: https://orcid.org/0000-0001-5863-9315)
- Christine Bodemer (ORCID: https://orcid.org/0000-0002-3089-5744)
- Mandy Aldwin-Easton
Institutions
- Northwestern University (US)
- Hôpital Necker-Enfants Malades (FR)
- Lurie Children's Hospital (US)
- Université Toulouse III - Paul Sabatier (FR)
- Asahikawa Medical University (JP)
- Inserm (FR)
- University of Freiburg (DE)
- Tel Aviv University (IL)
- Queen Mary University of London (GB)
- University of Milan (IT)
- Université Paris Cité (FR)
- Tel Aviv Sourasky Medical Center (IL)
- University Medical Center Freiburg (DE)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Yale University (US)
- Maastricht University (NL)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospital Infantil Universitario Niño Jesús (ES)
- Lurie Children's Hospital (US)
- Karl Landsteiner Society (AT)
- Institut des Maladies Génétiques Imagine (FR)
- Pachyonychia Congenita Project (US)
- Nagoya University (JP)
- Stanford University (US)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-03-28
- DOI
- https://doi.org/10.1093/bjd/ljaf065
- Citations
- 15
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 12.09