X-linked ichthyosis (Q46636): Difference between revisions

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Latest revision as of 15:21, 13 August 2026

X-linked ichthyosis is an X-linked recessive genodermatosis associated with steroid sulfatase deficiency and elevated plasma cholesterol sulfate. Generalised scaling is present at or shortly after birth, most prominently over the extremities, neck, trunk, and buttocks. It occurs only in males and may be associated with testicular disease and corneal opacities.

Language	Label	Description	Also known as
default for all languages	EC20.01
English	X-linked ichthyosis	X-linked ichthyosis is an X-linked recessive genodermatosis associated with steroid sulfatase deficiency and elevated plasma cholesterol sulfate. Generalised scaling is present at or shortly after birth, most prominently over the extremities, neck, trunk, and buttocks. It occurs only in males and may be associated with testicular disease and corneal opacities.