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Autosomal recessive generalized epidermolysis bullosa simplex

Disease definition

A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.

ORPHA:89838

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive generalized EBS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.0
  • OMIM: 601001
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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