Problem
X-linked ichthyosis
Nature:
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'.
Broader Problems:
KeratodermaCongenital disorders of lipid metabolism Problem Type:
G: Very specific problems Date of last update
04.10.2020 – 22:48 CEST