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

The document discussed the identification of KLHL24 as a new candidate gene for autosomal dominant epidermolysis bullosa simplex (EBS), contributing to the molecular heterogeneity of the condition. Mutations in the start codon of KLHL24 were found to cause a truncated protein that destabilizes keratin 14, leading to skin fragility. The study involved 7 individuals from 6 families, revealing that KLHL24 mutations accounted for a significant portion of unresolved EBS cases. Clinical features included birth trauma, blistering, nail defects, and oral ulceration, with blistering severity decreasing with age. The findings highlighted the importance of including KLHL24 in future EBS classifications.