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Localized junctional epidermolysis bullosa

Disease definition

A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.


Classification level: Disorder
  • Synonym(s):
    • JEB-nH loc
    • Junctional epidermolysis bullosa, non-Herlitz localized type
    • Localized JEB
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.8
  • OMIM: 226650
  • UMLS: C0474889
  • MeSH: -
  • GARD: 12923
  • MedDRA: -

Detailed information

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