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Syndromic X-linked ichthyosis

Synonym(s) Syndromic RXLI
Syndromic recessive X-linked ichthyosis
Prevalence 1-9 / 100 000
Inheritance X-linked recessive
Age of onset Childhood
  • Q80.1
MeSH -
MedDRA -


Disease definition

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.

Clinical description

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

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