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Harlequin ichthyosis

Disease definition

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

ORPHA:457

  • Synonym(s):
    • HI
    • Ichthyosis congenita, Harlequin type
    • Ichthyosis fetalis, Harlequin type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q80.4
  • OMIM: 242500
  • UMLS: C0239849  C0598226
  • MeSH: -
  • GARD: 6568
  • MedDRA: 10019163

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