Cohen P R, Kohn S R, Kurzrock R
Department of Dermatology, University of Texas Medical School, Houston 77030.
Am J Med. 1991 May;90(5):606-13.
The Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by: (1) at least a single sebaceous gland tumor (either an adenoma, an epithelioma, or a carcinoma) and (2) a minimum of one internal malignancy. To date, 120 patients with MTS have been reported. The most commonly associated neoplasms were colorectal (51%) and genitourinary (25%). Unlike colorectal neoplasms in the general population, the majority (58%) of these tumors in MTS patients occurred proximal to or at the splenic flexure. Nearly half of the MTS patients had more than one primary malignancy. Cutaneous lesions occurred before or concurrent with the diagnosis of the initial cancer in 41% of these patients. The median age for the appearance of the skin lesions was 53 years (range, 23 to 89 years); the median age for the detection of the initial visceral neoplasm was 50 years (range, 23 to 81 years). The cancers appear to have an indolent course in many of the MTS patients; the median survival has not been reached and the median follow-up is 10+ years. Patients with an MTS-associated cutaneous lesion should have a complete evaluation for gastrointestinal or genitourinary cancers. Although the penetrance of this disease is variable, its autosomal dominant inheritance suggests that relatives should be examined for sebaceous gland tumors and internal malignancy.
穆尔-托雷综合征（MTS）是一种常染色体显性遗传性皮肤病，其特征为：（1）至少有一个皮脂腺肿瘤（腺瘤、上皮瘤或癌），以及（2）至少有一种内脏恶性肿瘤。迄今为止，已报道120例MTS患者。最常伴发的肿瘤是结直肠癌（51%）和泌尿生殖系统肿瘤（25%）。与普通人群中的结直肠癌不同，MTS患者中这些肿瘤的大多数（58%）发生在脾曲近端或脾曲处。近一半的MTS患者有不止一种原发性恶性肿瘤。在这些患者中，41%的皮肤病变在初始癌症诊断之前或同时出现。皮肤病变出现的中位年龄为53岁（范围23至89岁）；初始内脏肿瘤检测的中位年龄为50岁（范围23至81岁）。在许多MTS患者中，癌症似乎进展缓慢；中位生存期尚未达到，中位随访时间为10多年。患有与MTS相关皮肤病变的患者应进行胃肠道或泌尿生殖系统癌症的全面评估。尽管这种疾病的外显率可变，但其常染色体显性遗传表明，亲属应接受皮脂腺肿瘤和内脏恶性肿瘤的检查。
