localized junctional epidermolysis bullosa, non-Herlitz type
ORPHA: 251393
Overview
Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails
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 localized junctional epidermolysis bullosa, non-Herlitz type, sourced from HPO and Orphanet clinical annotations.
Fragile skinAbnormal blistering of the skinSparse axillary hairSparse pubic hairAtrophic, patchy alopeciaEnamel hypoplasiaNail dystrophyDental enamel pitsAbnormality of dental colorAcral blisteringSkin detachmentAplasia cutis congenitaDystrophic toenailScarring alopecia of scalpDystrophic fingernailsAtypical scarring of skinMiliaLimb joint contractureMitten deformity
Classification & Codes
Orphanet Code
ORPHA:251393localized junctional epidermolysis bullosa, non-Herlitz type
| Orphanet | ORPHA:251393 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO