A newborn presenting with congenital blistering

A newborn girl presented with widespread skin blistering immediately after birth, while her mother exhibited palmoplantar keratoderma and scaling. Genetic analysis revealed a heterozygous single nucleotide TC transition in the KRT1 gene, resulting in a proline-to-leucine substitution at position 161, consistent with epidermolytic hyperkeratosis (EHK), an autosomal dominant condition. This mutation was identified in both the mother and daughter, linking their symptoms to EHK, a disorder associated with mutations in keratin genes. The study highlighted the genetic basis of EHK and its clinical manifestations, supported by histological findings from the mother's skin biopsy.