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

PMID 41592790 | DOI 10.1177/01455613251410928 · Ear, nose, & throat journal · 2026

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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.