recessive dystrophic epidermolysis bullosa inversa

ORPHA: 79409

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 recessive dystrophic epidermolysis bullosa inversa, sourced from HPO and Orphanet clinical annotations.

Fragile skinAbnormality of the urinary systemCarious teethMiliaAtrophic scarsAnonychiaGastrointestinal inflammationAbnormal blistering of the skinNail dystrophyLocalized skin lesionGenital blisteringOral mucosal blistersStenosis of the external auditory canalGrowth delayAnemiaEsophageal strictureMitten deformityPalmoplantar blisteringUrethral strictureVaginal stricture

Classification & Codes

Orphanet Code

ORPHA:79409
recessive dystrophic epidermolysis bullosa inversa
OrphanetORPHA:79409
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO