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

Abstract excerpt

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...

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