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Recessive dystrophic epidermolysis bullosa inversa

Disease definition

Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.

ORPHA:79409

  • Synonym(s):
    • Dystrophic epidermolysis bullosa inversa
    • Inverse RDEB
    • Inverse recessive dystrophic epidermolysis bullosa
    • RDEB-I
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.2
  • OMIM: 226600
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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