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Localized epidermolysis bullosa simplex

Disease definition

Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.

ORPHA:79400

  • Synonym(s):
    • EBS-loc
    • Epidermolysis bullosa simplex of palms and soles
    • Epidermolysis bullosa simplex, Weber-Cockayne type
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q81.0
  • OMIM: 131800
  • UMLS: C0080333
  • MeSH: -
  • GARD: 2146
  • MedDRA: -

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