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Junctional epidermolysis bullosa inversa

Disease definition

A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.

ORPHA:79405

Classification level: Disorder
  • Synonym(s):
    • JEB inversa
    • JEB-I
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.8
  • OMIM: 226650
  • UMLS: C2673609
  • MeSH: -
  • GARD: 2143
  • MedDRA: -

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