# Infant with a hereditary blistering disorder: an interesting case in the NICU

## TL;DR

A newborn with a hereditary blistering skin condition was successfully managed in the NICU with a multidisciplinary approach.

## Contribution

This case report provides management insights for neonatal hereditary blistering disorders with a VUS genetic variant.

## Key findings

- A multidisciplinary approach led to full recovery within six days of life.
- The patient had a genetic variant of unknown significance (VUS).
- No mucosal or ocular involvement was observed in the newborn.

## Abstract

This is a case of hereditary skin disorder in a full-term female newborn, with family history of epidermolysis bullosa (EB), who developed skin vesicles on the first day of life (DOL) without mucosal or ocular involvement. A multidisciplinary approach involving dermatology, wound care, and occupational therapy led to full recovery in our patient within six days of life. Special precautions were taken to prevent complications. Upon genetic testing, the patient was found to have a genetic variant of unknown significance (VUS). The goal of this case report is to give a detailed account of the patient’s course, provide management recommendations which could be applied to similar cases and settings in the newborn period.