X-linked ichthyosis (Q46636): Difference between revisions
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A ictiose ligada ao X é uma genodermatose recessiva ligada ao X associada à deficiência de esteróide sulfatase e ao sulfato de colesterol plasmático elevado. Descamação generalizada está presente no nascimento ou logo após o nascimento, mais proeminentemente nas extremidades, pescoço, tronco e nádegas. Ocorre apenas em homens e pode estar associada a doenças testiculares e opacidades da córnea. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
