junctional epidermolysis bullosa inversa

ORPHA: 79405

Overview

Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with junctional epidermolysis bullosa inversa, sourced from HPO and Orphanet clinical annotations.

Carious teethAbnormal blistering of the skinLocalized skin lesionFragile skinAtrophic scarsEnamel hypoplasiaNail dystrophyMiliaAnonychiaGastrointestinal inflammationHypoplastic dermoepidermal hemidesmosomesOral mucosal blisters

Classification & Codes

Orphanet Code

ORPHA:79405
junctional epidermolysis bullosa inversa
OrphanetORPHA:79405
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO