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Severe generalized junctional epidermolysis bullosa

Disease definition

A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.


Classification level: Disorder
  • Synonym(s):
    • Epidermolysis bullosa letalis
    • JEB-H
    • Junctional epidermolysis bullosa generalisata gravis
    • Junctional epidermolysis bullosa, Herlitz type
    • Junctional epidermolysis bullosa, Herlitz-Pearson type
    • Severe generalized JEB
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.1
  • ICD-11: EC31
  • OMIM: 226700  619786
  • UMLS: C0079683
  • MeSH: -
  • GARD: 2153
  • MedDRA: -

Detailed information

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