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X-linked ichthyosis

**{{{Name|X-linked ichthyosis}}}**
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ICD-10	Q80.1
ICD-O:	{{{ICDO}}}
ICD-9	757.1
OMIM	}}}
MedlinePlus	}}}
eMedicine	}}}
DiseasesDB	}}}

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

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

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

References

AC Jobsis et al: X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations. American Journal of Pathology, Vol 99, 279-289, 1980.

External links

OMIM308100

This article is licensed under the GNU Free Documentation License.
It uses material from the Wikipedia article X-linked ichthyosis.

All text is available under the terms of the GNU Free Documentation License