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題名 | Pseudoxanthoma Elasticum: A Systemic Disorder of Elastic Tissue Diagnosed by Skin--A Case Report=彈性假黃瘤:由皮膚確診的系統性彈性纖維疾病--病例報告 |
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作者 | 林育全; 張中興; 王朝輝; 蔡榮坤; 許永祥; Lin, Yu-chuan; Chang, Chung-hsing; Wang, Chao-huei; Tsai, Rong-kung; Hsu, Yung-Hsiang; |
期刊 | 慈濟醫學 |
出版日期 | 20061200 |
卷期 | 18:6 民95.12 |
頁次 | 頁445-447+469 |
分類號 | 415.753 |
語文 | eng |
關鍵詞 | 彈性假黃瘤; 彈性纖維; Pseudoxanthoma elasticum; Elastic fiber; ABCC6; |
中文摘要 | 彈性假黃瘤是一彈性纖維之遺傳疾病,主要影響了皮膚、眼睛、心臟血管等系統。本文報告一位49歲女性陪同家屬至皮膚科求診,由醫師主動發現在在頸部出現鬆弛、彈性不好的皮膚,上有密集的黃色小丘疹,皮膚切片檢查發現,病變要出現於真皮的中層與下層,彈性纖維呈嗜鹼性退化,產生腫脹、碎片及顆粒變化,彈性纖維上亦見鈣化現象。病人住院接受進一步的檢查,眼底鏡下可見網膜出現血管性線條,上消化道內視鏡顯示食道炎及糜爛性胃炎。心臟超音波顯示有僧帽瓣脫垂,且妹妹有相同的症狀。臨床病理下都符合彈性假黃瘤的診斷。 |
英文摘要 | Pseudoxanthoma elasticum (PXE) is a hereditary syndrome mainly involving the skin, eyes and cardiovascular system. We report on a female patient presenting with cobblestone-like yellowish papules over her neck as the initial diagnostic clue to PXE. A skin biopsy specimen reveled fragmentation and calcification of the elastic fibers in the middle and lower demis. Angioid steraks of the retina were demonstrated by fluorescent angiography. Cardiac echo revealed a mitral valve prolapsed. Gastroenteroscopy revealed esophagitis and erosive gastritis. The patient’s sister presented with the same symptoms. These features were consistent with our clinical diagnosis of PXE. |
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