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Annular epidermolytic ichthyosis

Disease definition

A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.

ORPHA:281139

Classification level: Disorder
  • Synonym(s):
    • AEI
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q80.3
  • OMIM: 607602
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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