Ehlers-Danlos Syndrome Type Ⅷ-A Case Report

Ehlers-Danlos徵候群第八型－病例報告

陳宇飛(Yu-Fei Chen) ； 李曉屏(Shiao-Pieng Lee) ； 于承平(Cheng-Ping Yu) ； 江建平(Chien-Ping Chiang)

《中華皮膚科醫學雜誌》 24卷2期 (2006/06) Pp. 150-154

https://doi.org/10.29784/DS.200606.0011

摘要

Ehlers-Danlos徵候群是一群由多種基因異常所致的結締組織疾病，有超過十種以上的表現型，其中Ehlers-Danlos徵候群第八型有其特別的臨床特徵：脛前皮膚有慢性發炎性的斑塊再加上嚴重的早發性牙周炎。我們於此提出一病例報告，一位26歲女性雙側脛前出現蠟樣、棕紫色的斑塊長達20年且合併早發性的恆齒脫落。根據臨床表現及實驗室檢查，診斷為Ehlers-Danlos徵候群第八型。目前對於此型病患並無特別的治療。

並列摘要

Ehlers-Danlos syndrome (EDS) is a genetically heterogeneous connective tissue disorder which is comprised of more than 10 phenotypes including EDS-Ⅷ (periodontitis type), which is characterized by chronically inflamed pretibial lesions and severe periodontitis. We describe a 26-year-old female with a long-standing history of abnormal scarring tissues, presenting with pretibial waxy violaceous plaques for more than 20 years. Premature loss of permanent teeth is also noted. Combining the clinical manifestations and laboratory examinations, we conclude this is a rare case of Ehlers-Danlos syndrome type Ⅷ. There is no specific treatment currently.

並列關鍵字

Ehlers-Danlos syndrome ； Ehlers-Danlos syndrome type Ⅷ ； Periodontitis