A Newborn Presenting With Congenital Blistering

A newborn girl presented with widespread skin blistering immediately after birth, which was diagnosed as epidermolytic hyperkeratosis (EHK), an autosomal dominant genodermatosis. The diagnosis was supported by clinical and histological findings, including a family history of palmoplantar keratoderma in the mother, who also had a history of worsening skin condition with retinoid treatment. Genetic analysis revealed a heterozygous single nucleotide mutation in the KRT1 gene in both the mother and daughter, resulting in a leucine-to-proline substitution, which was previously associated with EHK. This case highlighted the genetic basis of EHK and its manifestation in the newborn, with a mutation that had been documented in other families.