X-linked ichthyosis
X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms. The term is from the Ancient Greek 'ichthys' meaning 'fish'.
| X-linked ichthyosis | |
|---|---|
| Other names | Steroid sulfatase deficiency, X-linked recessive ichthyosis |
| X-linked recessive inheritance: Affected boys may inherit a deletion or mutation of the STS gene from their mothers | |
| Specialty | Medical genetics |
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