Supraglottic and Glottic Involvement in Epidermolysis Bullosa Simplex: A Pediatric Case Report and Review of Airway...

Airway involvement in epidermolysis bullosa (EB) is rare and most commonly associated with junctional EB. Laryngotracheal disease in epidermolysis bullosa simplex (EBS), particularly PLEC (Plectin gene)-related variants, is uncommon but may cause significant morbidity. We report a 7-year-old girl with autosomal recessive PLEC-related EBS who developed progressive supraglottic and glottic stenosis. She presented at 8 months old with severe respiratory distress requiring emergent tracheostomy. Serial endoscopies revealed persistent supraglottic granulation, an anterior glottic web, posterior glottic stenosis, and occasional bullae near the carina, with a patent subglottis and distal trachea. She underwent multiple direct laryngobronchoscopies for cold web release, dilation, mitomycin-C application, Kenacort injection, and excision of suprastomal granulation. Despite clinical stabilization, she remains tracheostomy-dependent with ongoing evaluation for potential decannulation. This case highlights the potential for significant airway disease in PLEC-related EBS, and underscores the importance of early recognition, gentle airway handling, and multidisciplinary management.