# A Case of Neonatal Junctional Epidermolysis Bullosa With a LAMB3 Mutation: Diagnostic Journey and Interdisciplinary Management

## TL;DR

A newborn with a rare skin condition called junctional epidermolysis bullosa was diagnosed through genetic testing and managed by a team of specialists.

## Contribution

The paper presents a case study emphasizing the role of genetic testing and interdisciplinary care in diagnosing neonatal junctional epidermolysis bullosa.

## Key findings

- A LAMB3 gene mutation was identified through exome sequencing, confirming junctional epidermolysis bullosa.
- Early recognition and interdisciplinary management improved outcomes for the neonate.
- Family history and genetic testing are critical for diagnosing inherited blistering disorders.

## Abstract

A 20‐year‐old primigravida mother delivered a male infant at 35 weeks of gestation via normal vaginal delivery. The infant, born to consanguineous parents (second‐degree cousins), had good Apgar scores (9 and 10 at 5 and 10 min) and was appropriate for gestational age with stable postnatal vitals. Family history was notable for the maternal uncle’s death in 2013 due to epidermolysis bullosa (EB) complicated by sepsis. On Day 2 of life, the neonate developed peeling of the skin over the fingers, buttocks, and thighs. Dermatological evaluation raised suspicion of EB, and conservative wound care was initiated. The infant developed recurrent blisters and required intermittent respiratory support and antibiotics. An interdisciplinary team including neonatologists, dermatologists, geneticists, and pediatric surgeons coordinated management. Electron microscopy of the skin biopsy revealed a plane of cleavage at the level of the lamina lucida, suggesting junctional epidermolysis bullosa (JEB) or EB simplex. Subsequent exome sequencing identified a pathogenic mutation in the LAMB3 gene, confirming a diagnosis of JEB. This case highlights the importance of early recognition, family history, and genetic testing in the diagnosis and interdisciplinary management of inherited blistering disorders in neonates.