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Lamellar ichthyosis

Disease definition

Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.

ORPHA:313

  • Synonym(s):
    • Classic lamellar ichthyosis
    • Congenital lamellar ichthyosis
    • LI
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q80.2
  • OMIM: 242300  601277  604777  606545  612281  613943  617571
  • UMLS: -
  • MeSH: D017490
  • GARD: 10803
  • MedDRA: 10023686

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