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題 名 | Incontinentia Pigmentia: Experience of Seventeen Cases=色素失調症:十七病例的經驗 |
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作 者 | 蔡長海; 蔡輔仁; 彭慶添; 李正淳; 許貴卿; 吳孟澤; 周宜卿; | 書刊名 | 中國醫藥雜誌 |
卷 期 | 2:4 1997.12[民86.12] |
頁 次 | 頁198-202 |
分類號 | 415.687 |
關鍵詞 | 色素失調症; Incontinentia pigmentia; |
語 文 | 英文(English) |
中文摘要 | 色素失調症為一罕見的X聯鎖顯性遺傳疾病。為了解國人在此病的表現,我們收集了工7例無親屬關係的病人,分析其皮膚表徵及臨床表現。17例中只有1個男性,且其染色體分析呈現47-XXY的核型。41﹪的個案有陽性家族史。三階段的皮膚病灶全部出現的佔一半以上,有兩例只有表現出色素沈著而無其它皮膚病灶。皮膚外的症狀包括中樞神經,眼睛及心臟心管系統的侵犯,其中以神經系統異常最為常見。41﹪的病例出現有抽痙的現象,但人部份可有良好的控制。 |
英文摘要 | Incontinentia pigmentia (Bloch-Sulzberger syndrome) is an uncommon enodermatosis with X-linked dominant inheritance. Seventeen Chinese cases of incontinentia pigmentia were collected and analyzed. Sixteen cases were female and I was male with an XXY karyotype. A family history of incontinentia pigmentia was present in seven (41﹪) cases. Nine (53%) cases presented 3 stages of characteristic skin manifestations. Two cases (12﹪) presented only in the pigmentary stage without history of earlier lesion. Some of our cases presented with extracutaneous defects that included the central neurologic system (CNS), hair, ocular, and cardiovascular system. One case had an unusual CNS lesion. More than one-third(41%)of cases had seizure disorder and most of them responded well to anticonvulsant therapy. |
本系統中英文摘要資訊取自各篇刊載內容。