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Congenital non-bullous ichthyosiform erythroderma

Disease definition

Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

ORPHA:79394

  • Synonym(s):
    • CIE
    • Erythrodermic ichthyosis
    • Non-bullous congenital ichthyosiform erythroderma
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q80.2
  • OMIM: 242100  606545  612281  615022  615023  615024
  • UMLS: C0079154
  • MeSH: -
  • GARD: 9736
  • MedDRA: -

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