06/10/2026
In this cross-sectional study, ectropion was evaluated and scored in patients with epidermal differentiation disorders (EDD), including lamellar ichthyosis (TGM1-nEDD) and harlequin ichthyosis (ABCA12-nEDD), using the Ectropion Severity Score (ESS).
The ESS demonstrated excellent reliability among six raters and confirmed that ectropion prevalence and severity are highest in TGM1-nEDD and ABCA12-nEDD, with additional high risk observed in PNPLA1 and SPINK5 genotypes.
These findings validate the ESS as a robust tool for assessing ectropion across EDD genotypes and support its use in future clinical monitoring and treatment response studies. https://ja.ma/4x38OsL