Higgins Heather J, Voutsalath Melissa, Holland Jean M
Oakwood Southshore Medical Center, Trenton, Michigan.
J Clin Aesthet Dermatol. 2009 Aug;2(8):30-2.
Muir-Torre syndrome is an autosomal dominant genodermatosis associated with sebaceous neoplasms and visceral malignancies. Characteristic sebaceous neoplasms include sebaceous adenoma, sebaceous carcinoma, sebaceoma, and keratoacanthoma with sebaceous differentiation. The most common visceral malignancies are colorectal and genitourinary tumors. Investigations into the molecular genetics of Muir-Torre Syndrome have revealed an association with germ-line mutations in hMSH2 and hMLH1 genes. The clinical and histological features of a patient with Muir-Torre syndrome who had two sebaceous adenomas, multiple basal cell carcinomas, and frontal bossing in association with colon cancer are presented in this report.
穆尔-托雷综合征是一种常染色体显性遗传性皮肤病，与皮脂腺肿瘤和内脏恶性肿瘤相关。特征性皮脂腺肿瘤包括皮脂腺腺瘤、皮脂腺癌、皮脂瘤以及具有皮脂腺分化的角化棘皮瘤。最常见的内脏恶性肿瘤是结直肠癌和泌尿生殖系统肿瘤。对穆尔-托雷综合征分子遗传学的研究揭示了其与hMSH2和hMLH1基因种系突变的关联。本报告介绍了一名患有穆尔-托雷综合征患者的临床和组织学特征，该患者有两个皮脂腺腺瘤、多个基底细胞癌，并伴有额部隆起及结肠癌。
