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Generalized junctional epidermolysis bullosa, non-Herlitz type

Disease definition

Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.

ORPHA:79402

  • Synonym(s):
    • GABEB
    • Generalized atrophic benign epidermolysis bullosa
    • JEB-nH gen
    • Junctional epidermolysis bullosa generalisata mitis
    • Junctional epidermolysis bullosa, Disentis type
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.8
  • OMIM: 226650
  • UMLS: -
  • MeSH: -
  • GARD: 12922
  • MedDRA: -

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