Navi Daniel, Wadhera Akhil, Fung Maxwell A, Fazel Nasim
University of California Davis, Department of Dermatology, USA.
Dermatol Online J. 2006 Sep 8;12(5):4.
A 65-year-old man with a history of multiple neoplastic and pre-neoplastic gastrointestinal lesions as well as urogenital carcinoma presented for evaluation of two asymptomatic skin-colored papules in the head and neck region. Biopsy revealed sebaceous neoplasms and immunohistochemical staining was negative for the presence of hMSH-2 protein in both specimens. These findings were consistent with a diagnosis of Muir-Torre syndrome in the setting of a prior history of visceral malignancies. Muir-Torre Syndrome is a rare autosomal dominant genodermatosis associated with mutations in mismatch repair proteins, hMSH-2 and hMLH-1, which predispose affected patients to visceral malignancies as well as sebaceous gland neoplasms.
一名65岁男性，有多种肿瘤性和癌前胃肠道病变以及泌尿生殖系统癌病史，因头颈部出现两个无症状的肤色丘疹前来评估。活检显示为皮脂腺肿瘤，两个标本的免疫组织化学染色均显示hMSH - 2蛋白阴性。这些发现与既往有内脏恶性肿瘤病史情况下的穆尔-托雷综合征诊断一致。穆尔-托雷综合征是一种罕见的常染色体显性遗传性皮肤病，与错配修复蛋白hMSH - 2和hMLH - 1的突变有关，使受影响的患者易患内脏恶性肿瘤和皮脂腺肿瘤。
