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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...

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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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National registry for ichthyosis and related disorders
From Journal of Drugs in Dermatology, 3/1/04

This study is currently recruiting patients.

Sponsored by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

The ichthyoses are a family of genetic skin diseases characterized by dry, thickened, scaling skin. Dermatologists estimate that there are at least twenty varieties of ichthyosis, with a wide range of severity and associated symptoms. This registry is designed to identify people in the United States with the ichthyoses and other related disorders and to collect information about their skin ailment and how it has affected them. The registry is confidential and provides researchers a way to share information about studies and trials with potential participants while maintaining participants' privacy.

Study ID Numbers: NIAMS-101

NLM Identifier: NCT00074685

COPYRIGHT 2004 Journal of Drugs in Dermatology
COPYRIGHT 2004 Gale Group

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