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X-linked ichthyosis



X-linked ichthyosis
Classification & external resources
ICD-10 Q80.1
ICD-9 757.1
OMIM 308100
DiseasesDB 29136
eMedicine derm/191 
MeSH D016114

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

Additional recommended knowledge

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 corneal 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.

See also

References

  • Jöbsis AC, De Groot WP, Tigges AJ, et al (1980). "X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations". Am. J. Pathol. 99 (2): 279-89. PMID 6929654.
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "X-linked_ichthyosis". A list of authors is available in Wikipedia.
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