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◆ Cureus2026-08-01

Neonatal Skin Blistering and Denudement Caused by Epidermolysis Bullosa.

Gavin Folkert, Anjali Aggarwal, Miltiadis Douvoyiannis

原始摘要(英文原文)· Original 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.
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Neonatal Skin Blistering and Denudement Caused by Epidermolysis Bullosa. — 科研速览 Science Skim