Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.

Epidermolysis bullosa simplex (EBS) with cardiomyopathy is a rare subtype caused by gain-of-function pathogenic variants in the KLHL24 gene, leading to both skin and cardiac involvement. We report a neonate with congenital erosions, scarring, and follicular atrophoderma, but minimal blistering, later confirmed to have a pathogenic KLHL24 variant. This presentation highlights atypical neonatal features that may mimic other conditions and emphasizes the importance of early genetic diagnosis. Given the risk of dilated cardiomyopathy, ongoing cardiac monitoring and family evaluation are essential.