ABSTRACT Background/Objectives 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. Methods 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. Results 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 . Conclusions 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.
Stichert et al. (Thu,) studied this question.