| Autor: |
Godfrey ED; Department of Renal Medicine , Lancashire Teaching Hospitals NHS Foundation Trust , Preston, Lancashire , UK., Coward RA; Department of Renal Medicine , Lancashire Teaching Hospitals NHS Foundation Trust , Preston, Lancashire , UK., Gharpuray-Pandit D; Department of Pathology , Lancashire Teaching Hospitals NHS Foundation Trust , Preston, Lancashire , UK., Lalloo F; Genetic Medicine , St Mary's Hospital, MAHSC , Manchester , UK., McKirdy S; Plastic Surgery , Lancashire Teaching Hospitals NHS Foundation Trust , Preston, Lancashire , UK., Woywodt A; Department of Renal Medicine , Lancashire Teaching Hospitals NHS Foundation Trust , Preston, Lancashire , UK. |
| Abstrakt: |
Muir-Torre syndrome (MTS) is a rare inherited cancer syndrome with variable penetrance. MTS follows an autosomal-dominant pattern of inheritance, and is a subtype of Lynch syndrome [formally known as hereditary non-polyposis colorectal cancer (HNPCC)]. MTS is caused by mutations in one of several mismatch repair genes. Patients typically present with sebaceous neoplasms (sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma) or with multiple keratoacanthomas. These patients also have an increased lifetime risk of visceral malignancies, typically affecting the colon, ovary, endometrium, genitourinary tract and small bowel. We describe a case of MTS in a haemodialysis patient and implications for transplant listing. |
