Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1.6Mb deletion of Xp22.31.

Summary

X-linked recessive ichthyosis, an inherited disorder of keratinization, is commonly associated with deletions of Xp22 affecting the steroid sulfatase (STS) locus. Usually, only males have a manifest phenotype. Carrier females can have dry skin but do not have ichthyosis. We now describe a female with clinically manifest X-linked recessive ichthyosis (XLI) and elucidate the genetic basis. Males with classical phenotypes were present on both the maternal and paternal sides of the family. We found that our patient has a homozygous interstitial 1.6 Mb deletion affecting the STS locus on Xp22.31. ...

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