recessive dystrophic epidermolysis bullosa
ORPHA: 79408
Overview
human disease
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, sourced from HPO and Orphanet clinical annotations.
Carious teethFragile skinMiliaAtrophic scarsFlexion contractureGrowth delayAnemiaMitten deformityGastrointestinal inflammationAbnormal blistering of the skinChronic painOral mucosal blistersAbnormality of the eyeDepressionAnxietyAnonychiaIron deficiency anemiaAbnormal scalp morphologySquamous cell carcinomaNail dystrophyGeneralized abnormality of skinErosion of oral mucosaChronic cutaneous woundRenal insufficiencyGlomerulonephritisNarrow mouthVisual lossIgA deposition in the glomerulusDelayed pubertyOsteopeniaOsteoporosisAplasia cutis congenitaRecurrent skin infectionsDilated cardiomyopathyRenal amyloidosisDysphagiaGastroesophageal refluxUrinary bladder sphincter dysfunctionMalnutritionEsophageal ulcerationFoot joint contractureAnkyloglossiaDecreased plasma total carnitineCutaneous melanomaUrethral strictureAnal fissureChronic kidney diseaseDecreased serum zincAbnormal circulating selenium concentrationAbnormality of vitamin metabolismDecreased circulating vitamin D concentrationCorneal erosionAbnormality of the urinary systemGenital blistering
Classification & Codes
Orphanet Code
ORPHA:79408recessive dystrophic epidermolysis bullosa
| Orphanet | ORPHA:79408 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO