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Recessive X-linked ichthyosis

Disease definition

Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.

ORPHA:461

  • Synonym(s):
    • RXLI
    • Steroid sulfatase deficiency
    • X-linked ichthyosis
    • XLI
  • Prevalence: 1-5 / 10 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q80.1
  • OMIM: 300001  308100
  • UMLS: C0079588  C2717836
  • MeSH: D016114
  • GARD: 7904
  • MedDRA: 10048063

Detailed information

Additional information

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