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Severe generalized recessive dystrophic epidermolysis bullosa

Disease definition

Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

ORPHA:79408

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

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