recessive dystrophic epidermolysis bullosa-generalized other
ORPHA: 89842
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-generalized other, sourced from HPO and Orphanet clinical annotations.
Atypical scarring of skinFragile skinGrowth delayAnemiaDecreased body weightAbnormal blistering of the skinAbnormal circulating selenium concentrationCarious teethMiliaFailure to thriveRecurrent skin infectionsDysphagiaConstipationGastroesophageal refluxAbnormal esophagus morphologyEsophageal strictureHypoalbuminemiaSkeletal muscle atrophyDecreased circulating carnitine concentrationMalnutritionIrregular hyperpigmentationEsophageal stenosisFeeding difficultiesDecreased serum zincChronic cutaneous woundDecreased circulating iron concentrationDecreased circulating vitamin D concentrationSkin erosionNarrow mouthVisual lossDepressionAnxietyDelayed pubertyAplasia cutis congenitaFlexion contractureDilated cardiomyopathyAnonychiaAbsent toenailNail dysplasiaNevusMitten deformityAnkyloglossiaGastrostomy tube feeding in infancyAnal fissureCorneal erosionSquamous cell carcinoma
Classification & Codes
Orphanet Code
ORPHA:89842recessive dystrophic epidermolysis bullosa-generalized other
| Orphanet | ORPHA:89842 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO