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Epidermolysis bullosa simplex, generalized severe

Disease definition

Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.

ORPHA:79396

Classification level: Disorder
  • Synonym(s):
    • EBS, generalized severe
    • Epidermolysis bullosa simplex, Dowling-Meara type
    • Epidermolysis bullosa simplex, herpetiformis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q81.0
  • OMIM: 131760
  • UMLS: C0079295
  • MeSH: -
  • GARD: 2141
  • MedDRA: -

Detailed information

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