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Updated: Jun 30, 2026

Ex Vivo Infection of Murine Epidermis with Herpes Simplex Virus Type 1
Published on: August 24, 2015
Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare
Sofia Guelfand Warnken1, Jon Kibbie1, Austin Larson2
1Department of Dermatology, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Abstract:
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.
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