Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa

Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is a rare subtype of dystrophic epidermolysis bullosa (EB) characterized by intertriginous cutaneous involvement and frequent mucosal disease. Although mucosal involvement is recognized in RDEB-I, its cumulative clinical burden remains poorly defined. This study systematically describes mucosal involvement, related complications, and procedural interventions in patients with RDEB-I.

We performed a retrospective chart review of patients with RDEB-I followed at a multidisciplinary EB center. Records were reviewed to document mucosal involvement across organ systems, associated complications, procedural interventions, and COL7A1 variants.

Ten patients were included (mean age at latest follow-up 32.5 years, range 9-54; 70% female). Mucosal involvement was universal, with oral, esophageal, and anorectal disease present in all patients (10/10), and frequent otologic (8/10), genitourinary (7/10), and ocular (4/10) involvement. Patients developed multiple mucosal complications (mean 13.2 per patient; range 8-22), requiring numerous procedures (mean 12.4 per patient; range 2-30). All involved systems except ocular required procedural intervention, most commonly for esophageal disease, including 74 dilations across 9 patients. Procedural complications occurred in 6 patients, including 10 esophageal mucosal injuries during dilation, as well as corneal abrasions and oropharyngeal injury from anesthetic management. Among patients with available genetic data (9/10), all harbored at least one variant that is either a glycine or arginine substitution in COL7A1.

Mucosal disease is a defining feature of RDEB-I, contributing substantially to morbidity and procedural burden across organ systems. Recognition of multisystem mucosal involvement is essential for anticipatory guidance and accurate disease severity assessment.