X-linked ichthyosis

X-linked ichthyosis
a chronic, X-linked ichthyosis caused by deficiency of the microsomal enzyme steryl-sulfatase as a result of mutation in the STS gene (locus: Xp22.32); it may be present at birth or appear in early infancy. It is characterized by prominent, adherent scales, often brown, especially on the neck, limbs, trunk, and buttocks. Corneal opacities that do not interfere with vision are often found; they may occur in minor form in heterozygotic female carriers.

Medical dictionary. 2011.

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