Ichthyosis, X Linked
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NORD is very grateful to the members of the Medical and Scientific Advisory Board of the Foundation for Ichthyosis & Related Skin Types for assistance in the preparation of this report.
Synonyms of Ichthyosis, X Linked
- Placental Steroid Sulfatase Deficiency; STS
- Recessive X-linked Ichthyosis
- Steroid Sulfatase Deficiency
- Steroid Sulfatase Deficiency Disease; SSDD
- No subdivisions found.
X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfate, a member of the chemical family of steroids. Cholesterol sulfate plays a role in maintaining the integrity of the skin. If steroid metabolism is interrupted and cholesterol sulfate accumulates in the skin cells, the skin cells stick together more strongly than usual. The normal shedding of dead skin cells is inhibited and the skin cells build up and clump into scales.
Organizations related to Ichthyosis, X Linked
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