epidermolysis bullosa herpetiformis
ORPHA: 79396
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 epidermolysis bullosa herpetiformis, sourced from HPO and Orphanet clinical annotations.
Palmoplantar keratodermaFragile skinAbnormal blistering of the skinNail dystrophyErythemaGeneralized abnormality of skinHyperpigmentation of the skinMiliaAplasia cutis congenitaAtrophic scarsGrowth delayRecurrent skin infectionsAlopeciaAnemiaEnamel hypoplasiaAplasia cutis congenita on trunk or limbsGeneralized reticulate brown pigmentationGastrostomy tube feeding in infancyFeeding difficultiesScarringOral mucosal blistersHypermetropiaPhotophobiaHypopigmentation of the skinGlobal developmental delayCraniosynostosisFailure to thriveAbnormality of the larynxLaryngomalaciaHoarse voiceOnychogryphosisVentriculomegalyRecurrent infectionsBronchomalaciaHypoalbuminemiaDecreased circulating immunoglobulin concentrationAbnormal epiglottis morphologyCongenital nystagmusDepigmentation/hyperpigmentation of skinCorneal opacityDistal lower limb amyotrophySmooth tongueSepsisSquamous cell carcinoma of the skin
Classification & Codes
Orphanet Code
ORPHA:79396epidermolysis bullosa herpetiformis
| Orphanet | ORPHA:79396 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO