Orphanet: Generalized dominant dystrophic epidermolysis bullosa
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Generalized dominant dystrophic epidermolysis bullosa

Disease definition

Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.

ORPHA:231568

Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
    • DDEB, Pasini and Cockayne-Touraine types
    • DDEB, generalized
    • DDEB-gen
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.2
  • OMIM: 131750
  • UMLS: C0432322
  • MeSH: -
  • GARD: 2139
  • MedDRA: -

Detailed information

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