- 期刊
以螢光染色體原位雜交確認X性染色體隱性遺傳魚鱗癬－病例報告
Diagnostic Confirmation of X-linked Recessive Ichthyosis by Fluorescent in Situ Hybridization-A Case Report
摘要
X性染色體隱性遺傳魚鱗癬(X-linked recessive ichthyosis)是先天遺傳基因異常所造成表皮代謝能力缺損的疾患，患者多為男性，發病原因多遺傳自母系性染色體基因缺失。臨床上可見程度不等的廣泛性皮膚脫屑，皮膚以外的表現則有角膜混濁以及隱睪症的可能性。在此我們報告一個案例為32歲男性到本院求診，自述出生後數個月至今，全身皮膚均有廣泛性脫屑，合併多角形、暗棕色皮屑，尤其以四肢伸側為甚。經由家族史的分析以及螢光染色體原位雜交檢測，在X性染色體短臂遠端(Xp22.3-pter)發現類固醇硫酸酶基因(steroid sulphatase gene; STS gene)的缺失，進一步確認為X性染色體隱性遺傳魚鱗癬。
關鍵字
無資料並列摘要
X-linked ichthyosis is a hereditary genetic disorder resulting in abnormal turnover of the epidermis. The majority of patients are males who inherit a defective maternal X-chromosome. Clinically, patients present with varying degrees of generalized desquamation. Other extra-cutaneous manifestations include corneal opacities and crypto-orchidism. We report a 32-year-old male patient who came to our clinic with the presentation of generalized desquamation combined with polygonal, brown scales on the extensor aspects of his extremities since birth. The deletion of the steroid sulphatase gene at Xp22.3-pter was detected by fluorescent in situ hybridization analysis with steroid sulphatase probe. Fluorescent in situ hybridization and pedigree analysis confirmed the diagnosis of X-linked recessive ichthyosis.