title: Metachronous occurrence of colorectal cancer in a muir-torre syndrome patient presenting with recurrent sebaceous adenoma of the eyelid: case report and updated review of the literature.
abstract: BACKGROUND
  Muir-Torre syndrome (MTS) is a rare genodermatosis considered a subtype of hereditary nonpolyposis colorectal cancer and traditionally associated with mutations in the mismatch repair genes.
  
  
  OBJECTIVE
  We describe a 51-year-old male with primary manifestations of recurrent sebaceous adenoma of the upper eyelid, a positive cancer family history, and metachronous occurrence of colorectal cancer.
  
  
  METHODS
  The diagnosis of MTS was established based on the clinical course, family history, and histopathologic findings, although further immunohistologic testing revealed the absence of MSH2 mutation. We additionally performed an updated summary of published MTS cases with sebaceous neoplasms originating from the eyelid and conjunctiva for the period 2005 to 2011.
  
  
  CONCLUSIONS
  This patient, the second Greek case described in the international literature, is of interest mainly because of the metachronous occurrence of the visceral malignancy in combination with the absence of MSH2 mutation. The need for high clinical suspicion for MTS in cases with sebaceous lesions of the periocular region should therefore be reinforced regardless of the mutational screening test undertaken.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Theagenio Cancer Hospital, Thessaloniki 54640, Greece. agiannidis@gmail.com
authors.forename: Christos
authors.initials: C
authors.lastname: Agiannidis
authors.forename: Zoe D
authors.initials: ZD
authors.lastname: Pana
authors.forename: Dimitra
authors.initials: D
authors.lastname: Molyva
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kalokasidis
authors.forename: Maria
authors.initials: M
authors.lastname: Mixiou
mesh_terms: D002288:Adenocarcinoma, Mucinous / Q000175:diagnosis* / Q000378:metabolism / Q000601:surgery; D000236:Adenoma / Q000175:diagnosis* / Q000601:surgery; D005142:Eyelid Neoplasms / Q000175:diagnosis* / Q000378:metabolism / Q000601:surgery; D006801:Humans; D008297:Male; D008875:Middle Aged; D055653:Muir-Torre Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D051718:MutS Homolog 2 Protein / Q000378:metabolism; D013997:Time Factors
chemical_list: C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein