De Novo Incontinentia Pigmenti in Female Twins

色素失調症於雙胞胎女嬰之病例報告

蘇本華(Pen-Hua Su) ； 陳家玉(Jia-Yuh Chen) ； 余如珊(Ju-Shan Yu) ； 蘇啟明(Chi-Ming Su) ； 黃子卿(Tzu-Ching Huang) ； 陳素珍(Suh-Jen Chen)

《Acta Paediatrica Taiwanica》 45卷3期 (2004/06) Pp. 178-180

https://doi.org/10.7097/APT.200406.0178

摘要

色素失調症的皮膚症狀依照出現順序的分期，分別爲開始是紅斑、小皰及水皰繼而爲疣狀、斑狀皮膚之表現，最後慢慢褪去留下深色的色素沈積，我們報告一對雙胞胎女嬰，一出生兩人均有明顯的紅斑及小水皰分布在全身，其中一位在眼科檢查時發現週邊網膜有血管增生。
由於許多研究指出位於X染色體長臂28區域的factorⅧ基因與色素失調症有關，與此基因座距離200kb的NEMO基因亦被找出。因此我們利用文獻上的一組聚合本酶鏈式反應診斷出本雙胞胎病人均爲自發性突變之色素失調症患者，而父母親均爲正常人。

關鍵字

色素失調症 ； NEMO基因 ； 聚合酶鏈式反應

並列摘要

The cutaneous lesions of incontinentia pigmenti classically evolve in stages, beginning with erythematous vesicular rash and bullae, followed by verrucose lesions, with an eventual macular pattern of splashed or whorled hyperpigmentation. We describe female twins presenting with the classic form of cutaneous expression. Ophthalmologic examination revealed abnormal vascular proliferations in the peripheral retinas in twin B. Several studies have confirmed linkage of familial incontinentia pigmenti to chromosome Xq28, with the factor Ⅷ gene in Xq28 identified as the locus for incontinentia pigmenti. Two-hundred kilobases proximal to this locus, the gene for NEMO (NF-KB essential modulator)/IKKγ (I и B kinase-γ) has been mapped. We describe herein female twins with incontinentia pigmenti caused by a de novo mutation of this locus, as demonstrated by diagnostic polymerase chain reaction.

並列關鍵字

incontinentia pigmenti ； NEMO gene ； polymerase chain reaction