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Epidermolysis bullosa simplex due to BP230 deficiency

Disease definition

Epidermolysis bullosa simplex due to BP230 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big.


Classification level: Disorder
  • Synonym(s):
    • DST-related epidermolysis bullosa simplex
    • EBS-AR BP230
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: Q81.0
  • OMIM: 615425
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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