Two-days Old Newborn with Epidermolysis Bullosa Simplex: Severe Subtype

Abstract

This case report details a rare instance of severe epidermolysis bullosa simplex (EBS) in a two-day-old neonate with distinctive clinical features. The patient exhibited extensive blistering on the hands, tongue, face, and ears, prompting admission to the Neonatal Intensive Care Unit. Ge-netic testing confirmed a heterozygous dominant negative mutation on the KRT14 gene, confirming the diagnosis of severe EBS. Laboratory findings revealed leukocytosis and electrolyte abnormalities, while biopsy examination showcased subepidermal blisters. The neonate received supportive management, including nasogastric tube feeding and wound care, resulting in improvement and subsequent discharge with a follow-up plan. Discussion delves into EB classification, emphasizing the unique features of severe EBS. A succinct comparison table outlines clinical distinctions among localized, intermediate, severe, and mottled pigmentation EBS. This case highlights the complexities in diagnosing and managing severe EBS in neonates and advocates for further research to establish comprehensive treatment guidelines, especially in newborns, and explore emerging therapies for epidermolysis bullosa.