Punctate Palmoplantar Epidermal Differentiation Disorder Caused by AAGAB Variants: Large-Scale Genomic Data Suggest Under-recognition
The prevalance of AAGAB assosiated punctate palmoplantar epidermal differentiation disorder has only been estimated twice, in Slovenian and Croatian populations to 1.17 and 3.3 per100,000 respectively. This manuscript provides global and ancestry specific prevalance estimates, using large-scale genomic reference datasets. We estimate the global prevalance to a minimum of 12.4 per 100,000, suggesting previous underrecognition of the disease.
Authors
- Stine Bjørn Gram (ORCID: https://orcid.org/0000-0002-9396-7549)
- Sigrún Alba Jóhannesdóttir Schmidt (ORCID: https://orcid.org/0000-0001-5527-0698)
- Peter C. van den Akker (ORCID: https://orcid.org/0000-0002-3734-753X)
- Sofie F Jørgensen
Institutions
- University Medical Center Groningen (NL)
- University of Southern Denmark (DK)
- Odense University Hospital (DK)
- Aarhus University Hospital (DK)
- ERN GUARD-Heart (NL)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2026-09-10
- DOI
- https://doi.org/10.1093/bjd/ljag398
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00