Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa.

Cohort studyPediatric dermatology· Jun 2026

Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa.

Valerie R Stichert, Nichole Halliburton, Sarah Crawford … Beth A Moeves

Read paper

Pediatric DermatologyCohort studyPrognosisQ2IF 1.1

Oral, esophageal, and anorectal disease affected all patients with this epidermolysis bullosa subtype

Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa.

Valerie R Stichert … Beth A Moeves

Pediatric dermatology · Jun 2026 · Q2 in Dermatology

Background

Recessive dystrophic epidermolysis bullosa inversa (recessive dystrophic epidermolysis bullosa inversa) is a rare subtype of dystrophic epidermolysis bullosa (epidermolysis bullosa) characterized by intertriginous cutaneous involvement and frequent mucosal disease.

Methods

We performed a retrospective chart review of patients with recessive dystrophic epidermolysis bullosa inversa followed at a multidisciplinary epidermolysis bullosa center.

n = 9 patients

Results

oral, esophageal, and rectal disease struck every patient, none spared

10/10 pa

Oral/Esophageal/Anorec

8/10 pa

Otologic

7/10 pa

Genitourinary

4/10 pa

Ocular

More results

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.

“

Conclusion · 1 of 2

Mucosal disease is a defining feature of recessive dystrophic epidermolysis bullosa inversa, contributing substantially to morbidity and procedural burden across organ systems.

Conclusion · 2 of 2

Recognition of multisystem mucosal involvement is essential for anticipatory guidance and accurate disease severity assessment.

Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa.

Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa.

Related papers