Orphanet: Junctional epidermolysis bullosa, non Herlitz type

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Junctional epidermolysis bullosa, non-Herlitz type

Disease definition

Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.


Classification level: Disorder
  • Synonym(s):
    • JEN-nH
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.8
  • OMIM: 226650
  • UMLS: C0268374
  • MeSH: -
  • GARD: 2151
  • MedDRA: -

Detailed information

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