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Epidermolysis bullosa simplex due to exophilin 5 deficiency

Disease definition

Epidermolysis bullosa simplex due to exophilin 5 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.


  • Synonym(s):
    • EBS-AR exophilin 5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q81.0
  • OMIM: 615028
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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Additional information

Further information on this disease

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