Orphanet: Localized junctional epidermolysis bullosa, non Herlitz type

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Localized junctional epidermolysis bullosa, non-Herlitz type

Disease definition

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.


Classification level: Subtype of disorder
  • Synonym(s):
    • JEB-nH loc
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.8
  • OMIM: 226650
  • UMLS: -
  • MeSH: -
  • GARD: 12923
  • MedDRA: -

Detailed information

Article for general public


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