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Epidermolytic ichthyosis

Disease definition

Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

ORPHA:312

  • Synonym(s):
    • BCIE
    • Bullous congenital ichthyosiform erythroderma
    • Bullous congenital ichthyosiform erythroderma of Brock
    • Bullous ichthyosis
    • EHK
    • EI
    • Epidermolytic hyperkeratosis
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q80.3
  • OMIM: 113800  607602
  • UMLS: C0079153
  • MeSH: -
  • GARD: 1039
  • MedDRA: -

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