Simon M, Hagedorn M
Hautklinik, Klinikum Darmstadt, Darmstadt-Eberstadt.
Hautarzt. 1997 Nov;48(11):800-5. doi: 10.1007/s001050050663.
The Clarke-Howel-Evans-McConnell syndrome is a rare hereditary disease characterized by palmoplantar keratoses, squamous cell carcinoma of the esophagus and oral leukoplakia. According to a new classification recently proposed by Stevens and colleagues, the syndrome can also be classified as palmoplantar ectodermal dysplasia type III. We report a family from the Black Forest region of Germany afflicted with the syndrome. The family was traced through five generation. 27 of 46 family members showed tylotic skin changes. In addition, 8 patients showed oral leukoplakia and 5 died from squamous cell carcinoma of the esophagus. Using screening examinations, early changes of the esophageal mucosa could be detected. The responsible gene has been mapped in the family. It is located at 17q23-qter, telomeric to the keratin II gene cluster. Therefore a defect in one of the well known keratin genes can be excluded as a cause of the syndrome.
克拉克 - 豪厄尔 - 埃文斯 - 麦康奈尔综合征是一种罕见的遗传性疾病，其特征为掌跖角化病、食管鳞状细胞癌和口腔白斑。根据史蒂文斯及其同事最近提出的新分类，该综合征也可归类为III型掌跖外胚层发育不良。我们报告了一个来自德国黑森林地区的患该综合征的家族。这个家族追踪了五代。46名家族成员中有27人表现出胼胝性皮肤改变。此外，8名患者有口腔白斑，5人死于食管鳞状细胞癌。通过筛查检查，可以检测到食管黏膜的早期变化。该家族中致病基因已被定位。它位于17q23 - qter，在角蛋白II基因簇的端粒位置。因此，可以排除已知角蛋白基因之一的缺陷是该综合征的病因。
