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Ichthyosis, x-linked : ウィキペディア英語版
X-linked ichthyosis

X-linked ichthyosis (XLI) (also known as "Steroid sulfatase deficiency," and "X-linked recessive ichthyosis")(from the Ancient Greek 'ichthys' meaning 'fish') 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.〔: Treatment Section〕
== History ==
In the 1960s, recessive x-linked ichthyosis was distinguished clinically from other ichthyoses.〔Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.〕〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.〕

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「X-linked ichthyosis」の詳細全文を読む



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