Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

The study identified mutations in the KLHL24 gene as a new contributor to the molecular heterogeneity of epidermolysis bullosa simplex (EBS), a skin fragility disorder. In 7 cases from 6 families, mutations in the start codon of KLHL24 led to a truncated protein that disrupted keratin 14 turnover, causing skin blistering. This finding enhanced the understanding of EBS and suggested that KLHL24 should be included in future classifications of the disorder. The study noted variability in clinical presentation, with common features such as birth trauma, blistering, nail defects, and oral ulceration, but no hair abnormalities were observed in the cohort.