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Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Disease definition

A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

ORPHA:79408

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
    • Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
    • Generalized RDEB, severe form
    • RDEB generalisata gravis
    • RDEB, Hallopeau-Siemens type
    • Severe generalized RDEB
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q81.2
  • OMIM: 226600
  • UMLS: -
  • MeSH: -
  • GARD: 6308
  • MedDRA: -

Detailed information

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