Neonatal Skin Blistering and Denudement Caused by Epidermolysis Bullosa

Abstract

The presented case of sharply localized neonatal blistering caused by autosomal dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation illustrates the diagnostic challenges and clinical reasoning required in evaluating skin fragility disorders. It reinforces that epidermolysis bullosa should be considered early in the differential for congenital blistering, especially when distribution is localized to trauma-prone areas and infectious and autoimmune causes are excluded. Histopathology, immunofluorescence, and genetic testing remain essential for diagnosis. Supportive, multidisciplinary management and early counseling optimize outcomes, while advances in molecular therapy offer hope for transformative future care.