ABSTRACT Epidermolysis bullosa simplex (EBS) is a genetic condition characterized by skin fragility and blistering due to minimal mechanical trauma. EBS‐KLHL24, a rare subtype, arises from pathogenic variants in the KLHL24 gene and has unique clinical features, including systemic involvement. We present a case of a 16‐year‐old patient with EBS‐KLHL24 exhibiting novel clinical findings, including significant oral blistering, hyperkeratotic papules, ocular involvement, and lichenified reticulate flexural scarring. This case expands the EBS‐KLHL24 phenotype and highlights the importance of accurate diagnosis, early genetic confirmation, and multidisciplinary care to improve understanding of this disorder.
Anzelc et al. (Sun,) studied this question.