Wang Jing, Qi Xin, Zhang Kunning, Zhang Wei
Ophthalmology, Beijing Chao-Yang Hospital of Capital Medical University, Beijing, China.
Pathology, Beijing Chao-Yang Hospital of Capital Medical University, Beijing, China.
BMC Ophthalmol. 2025 Apr 17;25(1):218. doi: 10.1186/s12886-025-04044-5.
Muir-Torre syndrome is a rare disorder characterized by patients suffering from sebaceous gland tumors or keratoacanthoma and visceral malignancies. More cases have been reported in Europe than in Asia. In this study, we report a case of MTS in China.
A 64 -year-old woman presented with a growth on the left upper eyelid noticed 3 months prior. Ancillary examinations include orbital CT, Ultrasound of parotid and submandibular glands, and Ultrasound of the cervical lymph nodes. All showed no clear abnormalities. Eyelid tumors were removed after general anesthesia. Seven months after the operation, a malignant rectal tumor was found. Based on the patient's clinical manifestations, physical signs, and ancillary test findings, this case was ultimately diagnosed as a rare presentation of keratoacanthoma combined with rectal malignancy.
This case report describes a rare occurrence of Muir-Torre syndrome (MTS) diagnosed in a patient who presented with a keratoacanthoma of the eyelid and subsequently developed rectal carcinoma. The diagnosis was confirmed through comprehensive clinical evaluation and molecular analysis demonstrating microsatellite instability, consistent with the diagnostic criteria for MTS.
穆尔-托雷综合征是一种罕见的疾病，其特征是患者患有皮脂腺肿瘤或角化棘皮瘤以及内脏恶性肿瘤。欧洲报告的病例比亚洲多。在本研究中，我们报告了中国的一例穆尔-托雷综合征病例。
一名64岁女性，3个月前发现左上眼睑有肿物。辅助检查包括眼眶CT、腮腺及颌下腺超声、颈部淋巴结超声。所有检查均未发现明显异常。全身麻醉后切除眼睑肿瘤。术后7个月发现直肠恶性肿瘤。根据患者的临床表现、体征及辅助检查结果，该病例最终被诊断为罕见的角化棘皮瘤合并直肠恶性肿瘤。
本病例报告描述了一例罕见的穆尔-托雷综合征（MTS），该患者最初表现为眼睑角化棘皮瘤，随后发展为直肠癌。通过综合临床评估和分子分析证实存在微卫星不稳定性，符合穆尔-托雷综合征的诊断标准，从而确诊。
