据医学空间网12月29日报道（原载Journal of Infections Diseases192（11）：1943-1949），肝脏皮脂腺病是丙型肝炎病毒感染患者中常见的症状，常常伴随着严重的肝纤维化。同时感染了HIV和丙型肝炎病毒的肝脏皮脂腺病人的特点目前还没...据医学空间网12月29日报道（原载Journal of Infections Diseases192（11）：1943-1949），肝脏皮脂腺病是丙型肝炎病毒感染患者中常见的症状，常常伴随着严重的肝纤维化。同时感染了HIV和丙型肝炎病毒的肝脏皮脂腺病人的特点目前还没有系统地研究过。科学家们检查了106名同时患有HIV和HCV但没有感染HBV的患者的肝脏活组织，检测皮脂腺病和脂肪性肝炎与病毒感染之间的关系，并由此来解释皮脂腺病的风险因子。展开更多
Background: Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the association of at least 1 cutaneous sebaceous tumor and 1 internal malignancy, often arising in the gastrointestinal t...Background: Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the association of at least 1 cutaneous sebaceous tumor and 1 internal malignancy, often arising in the gastrointestinal tract. It is secondary to germline mutations in DNA mismatch repair genes, mainly MLH-1 and MSH-2. Observations: We report the case of a 54-year-old man with a 2-year history of skin-colored papules clinically reminiscent of large sebaceous hyperplasias on the nose and back,but histologically diagnosed as sebaceous adenomas and epitheliomas. His family history was positive for colon cancer in the mother and 2 brothers. A colonoscopy done during the hospitalization revealed 2 sessile polyps in the left colon, both showing a low-grade dysplasia on the biopsy specimen. Immunohistochemical staining performed on the cutaneous and colic biopsy specimens revealed a lack of expression of MSH-2 and MSH-6. Genetic testing revealed microsatellite instability in the colon and cutaneous tumors. Conclusion: The immunohistochemical testing for MSH-2, MSH-6, and MLH-1 is useful for rapid identification of an underlying mismatch repair defect and early diagnosis of MTS.展开更多
文摘据医学空间网12月29日报道（原载Journal of Infections Diseases192（11）：1943-1949），肝脏皮脂腺病是丙型肝炎病毒感染患者中常见的症状，常常伴随着严重的肝纤维化。同时感染了HIV和丙型肝炎病毒的肝脏皮脂腺病人的特点目前还没有系统地研究过。科学家们检查了106名同时患有HIV和HCV但没有感染HBV的患者的肝脏活组织，检测皮脂腺病和脂肪性肝炎与病毒感染之间的关系，并由此来解释皮脂腺病的风险因子。
文摘Background: Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the association of at least 1 cutaneous sebaceous tumor and 1 internal malignancy, often arising in the gastrointestinal tract. It is secondary to germline mutations in DNA mismatch repair genes, mainly MLH-1 and MSH-2. Observations: We report the case of a 54-year-old man with a 2-year history of skin-colored papules clinically reminiscent of large sebaceous hyperplasias on the nose and back,but histologically diagnosed as sebaceous adenomas and epitheliomas. His family history was positive for colon cancer in the mother and 2 brothers. A colonoscopy done during the hospitalization revealed 2 sessile polyps in the left colon, both showing a low-grade dysplasia on the biopsy specimen. Immunohistochemical staining performed on the cutaneous and colic biopsy specimens revealed a lack of expression of MSH-2 and MSH-6. Genetic testing revealed microsatellite instability in the colon and cutaneous tumors. Conclusion: The immunohistochemical testing for MSH-2, MSH-6, and MLH-1 is useful for rapid identification of an underlying mismatch repair defect and early diagnosis of MTS.
