Cutaneous Manifestations in a Patient with Werner Syndrome -Case Report and Literature Review-

Werner徵候群的皮膚表現─個案報告以及文獻回顧─

陳怡如(Yi-Ju Chen) ； 楊智超(Chih-Chao Yang) ； 朱家瑜(Chia-Yu Chu) ； 戴仰霞(Yang-Shia Dai) ； 孫啟璟(Chee-Ching Sun)

《中華皮膚科醫學雜誌》 20卷1期 (2002/03) Pp. 74-83

https://doi.org/10.29784/DS.200203.0005

摘要

Werner徵候群是一種罕見的隱性遺傳疾病，其主要特徵在於基因的不穩定性，以及提早產生老化相關疾病。Werner徵候群的典型臨床表徵包括年輕時即出現老化的外貌以及白頭髮。其他臨床表徵包括雙白內障、鞏皮樣皮膚、矮小、糖尿病、性荷爾蒙低下、骨質疏鬆、動脈硬化和癌症。Werner徵候群並且具有很多特殊的皮膚表現。我們在此報告一位Werner徵候群的25歲女性病人的皮膚臨床表徵及組織病理變化。這也是台灣第一個報告Werner徵候群的病例。

並列摘要

Werner syndrome is a rare autosomal recessive disorder that manifests as genetic instability as well as early onset of aging-related diseases. Patients with Werner syndrome develop aged appearance and graying of hair at young age. Other characteristic features include bilateral congenital cataracts, sclerodermoid skin changes, short stature, diabetes mellitus, hypogonadism, osteoporosis, atherosclerosis and various types of cancer, there are also florid cutaneous manifestations in WS. We herein report the cutaneous manifestations and histopathologic findings of a 25-year-old female with Werner syndrome. This is the first known reported case of Werner syndrome in Taiwan.

並列關鍵字

Werner syndrome ； Werner's syndrome