# Epidermolysis Bullosa Accompanied by Duodenal Atresia in an Infant: A Report of a Rare Case

## TL;DR

A rare case of a newborn with both epidermolysis bullosa and duodenal atresia is reported, highlighting the challenges in diagnosis and treatment.

## Contribution

This report adds to the limited literature on the co-occurrence of EB and DA, emphasizing the need for multidisciplinary care.

## Key findings

- The neonate was diagnosed with EB and DA, a rare combination requiring surgical and interdisciplinary management.
- Early diagnosis and treatment led to significant post-surgical improvement in the neonate's condition.
- The long-term prognosis remains uncertain due to the chronic nature of EB.

## Abstract

Epidermolysis bullosa (EB) is a group of inherited disorders characterized by skin fragility, resulting in blisters and erosions from minor trauma. Duodenal atresia (DA) is a rare congenital malformation that causes luminal obstruction, typically presenting with non-bilious vomiting and abdominal distension in neonates - hallmark signs of proximal intestinal obstruction. The co-occurrence of EB and DA is exceptionally rare and poses unique diagnostic and treatment challenges. We report the case of a term neonate born with widespread skin blistering and erosions, subsequently diagnosed with EB. By the second day of life, the neonate developed non-bilious vomiting and abdominal distension, leading to a diagnosis of DA confirmed radiologically by the characteristic “double bubble” sign. Surgical correction via duodenoduodenostomy was performed, complemented by interdisciplinary care involving wound and pain management as well as nutritional support. Post-surgery, the neonate showed significant improvement, underscoring the importance of early diagnosis and a multidisciplinary approach in managing these complex conditions. However, the long-term prognosis remains guarded due to the chronic nature of EB.