Orphanet: Recessive X linked ichthyosis

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.


Classification level: Disorder
  • 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  C2720163
  • MeSH: D016114
  • GARD: 7904
  • MedDRA: 10048063

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.