Muir–Torre syndrome in a haemodialysis patient

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 mi...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Clinical kidney journal 2013-08, Vol.6 (4), p.414-417
Hauptverfasser: Godfrey, Evonne D., Coward, Robert A., Gharpuray-Pandit, Deepa, Lalloo, Fiona, McKirdy, Stuart, Woywodt, Alexander
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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.
ISSN:2048-8505
2048-8513
DOI:10.1093/ckj/sft068