Novel Clinical Observations Indicative of Epidermolysis Bullosa Simplex Associated With KLHL24

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.