Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Syndromic X-linked ichthyosis

Orpha number ORPHA281090
Synonym(s) Syndromic RXLI
Syndromic recessive X-linked ichthyosis
Prevalence 1-9 / 100 000
Inheritance
  • X-linked recessive
Age of onset Childhood
ICD-10
  • Q80.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

The prevalence of syndromic RXLI is estimated at 1/50,000-1/150,000. It affects almost exclusively males.

Cutaneous manifestations include generalized hyperkeratosis and scaling of the skin. Non cutaneous manifestations may be corneal opacity, late puberty, cryptorchidism and a higher frequency of testicular cancer. Manifestations due to contiguous gene syndrome include neurological abnormalities such as epilepsy and hyposmia, intellectual deficit and/or short stature. This mechanism can be observed in Kallman syndrome, hypergonadotropic hypogonadism, ocular albinism type 1 (see these terms), or hypertrophic pyloric stenosis.

RLXI is due to mutations in the steroid sulfatase STS gene located on chromosome Xp22.3. STS codes for a lipid hydrolase that participates in the regulation of permeability barrier homeostasis and desquamation. STS mutations result in abnormal desquamation, decreased corneodesmosomal degradation and retention hyperkeratosis. Transmission is X-linked recessive.

Expert reviewer(s)

  • Dr Vinzenz OJI

(*) Required fields.

Attention: 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

Detailed information

Summary information
Practical genetics
  • EN (2013,pdf)
Get Acrobat Reader
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.