Jones Brad, Oh Carol, Mangold Elisabeth, Egan Conleth A
Department of Dermatology, Our Lady of Lourdes Hospital, Drogheda, Ireland.
Australas J Dermatol. 2006 Nov;47(4):266-9. doi: 10.1111/j.1440-0960.2006.00292.x.
A 65-year-old man presented with a history of multiple skin coloured papules on his face that were asymptomatic. He had an adenocarcinoma resected from his proximal colon 12 years prior to presentation as well as a family history of colon cancer on the maternal side. Diagnostic biopsies showed the lesions to be sebaceous adenomas and epitheliomas and the diagnosis of Muir-Torre syndrome was made. The sebaceous tumour tissue showed microsatellite instability and immunohistochemical staining indicated diminished expression in the DNA mismatch-repair protein complex MSH2/MSH6. Genetic analysis showed a germline mutation in the MSH2 gene confirming the diagnosis of Muir-Torre syndrome. The patient and his first-degree relatives have been referred for genetic counselling and screening. We review the diagnostic criteria in this syndrome and review the recommended screening guidelines.
一名65岁男性，面部有多个肤色丘疹，无症状。他在就诊前12年曾接受近端结肠癌切除术，且有母系结肠癌家族史。诊断性活检显示病变为皮脂腺腺瘤和上皮瘤，诊断为穆尔-托雷综合征。皮脂腺肿瘤组织显示微卫星不稳定性，免疫组化染色表明DNA错配修复蛋白复合物MSH2/MSH6表达减少。基因分析显示MSH2基因存在种系突变，确诊为穆尔-托雷综合征。该患者及其一级亲属已被转介接受遗传咨询和筛查。我们回顾了该综合征的诊断标准，并回顾了推荐的筛查指南。
