Gilly B, Unholzer A, Strobl-Wildemann G, Haas C, Starz H, Welzel J
Klinik für Dermatologie und Allergologie, Klinikum Augsburg Süd.
Hautarzt. 2013 Apr;64(4):290-4. doi: 10.1007/s00105-012-2503-z.
Muir-Torre syndrome (MTS) is a rare phenotypic variant of hereditary non-polyposis colorectal carcinoma (HNPCC, Lynch syndrome), in which patients, in addition to visceral carcinomas, develop skin tumors. Multiple keratoacanthomas and basal cell carcinomas with sebocytic differentiation are characteristic as well as multiple benign and malignant tumors of the sebaceous glands, such as sebaceous adenoma, sebaceous epithelioma (sebaceoma) and sebaceous carcinoma. Particularly Cystic tumors of the sebaceous glands are especially suggestive of MTS. In genetically predisposed persons, cutaneous and visceral tumors are diagnosed at an average age of 53 years. Here we present an interesting case of a 65-year-old man in whom molecular genetic tests revealed a novel mutation in the MSH2 gene, leading to a frame shift within the gene.
穆尔-托雷综合征（MTS）是遗传性非息肉病性结直肠癌（HNPCC，林奇综合征）的一种罕见表型变异，患者除内脏癌外还会发生皮肤肿瘤。多发性角化棘皮瘤和具有皮脂腺分化的基底细胞癌以及皮脂腺的多种良性和恶性肿瘤，如皮脂腺腺瘤、皮脂腺上皮瘤（皮脂腺瘤）和皮脂腺癌，具有特征性。特别是皮脂腺囊肿性肿瘤尤其提示MTS。在遗传易感性个体中，皮肤和内脏肿瘤的诊断平均年龄为53岁。在此，我们报告一例有趣的病例，一名65岁男性，分子遗传学检测发现MSH2基因存在一个新的突变，导致该基因内的移码突变。
