X-linked ichthyosis

X-linked ichthyosis is an inborn error of metabolism characterized by a deficiency in microsomal sulfatase. It is also referred to as placental sulfatase deficiency. more...

The genetic locus for the steroid sulfatase gene has been mapped to the distal short arm of the x chromosome (Xp22.32). Affected individuals, usually male, develop ichthyosis in the form of hyperkeratosis after birth, sometimes associated with pyloric stenosis, cryptorchism, or cornual opacities.

Prenatally, the condition affects placental estrogen production, as precursor steroids from the male fetus are not fully utilized due to difficulty in removing their sulfate group. Estriol levels during pregnancy are low. Pregnancies may be complicated by an inability to go into spontaneous labor. Typically children are delivered by cesarean section.

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