New facial papules in a 66-year-old woman with bladder cancer

J Am Acad Dermatol. 2014 Dec;71(6):1250-5. doi: 10.1016/j.jaad.2014.07.012. Epub 2014 Aug 7.


Muir-Torre Syndrome (MTS) is an autosomal dominant cancer syndrome that results from a mutation in mismatch repair genes. It is characterized by sebaceous neoplasms, keratoacanthomas, and visceral neoplasm(s) affecting the colon, uterus, ovaries, bladder, or other organs.

Mismatch repair immunohistochemistry and microsatellite instability testing of sebaceous neoplasms is available to confirm a diagnosis of MTS.

Early recognition of cutaneous features of MTS could lead to early diagnosis and prevention of advanced neoplasms in patients and family members.

Keywords: Lynch syndrome; MutS homolog 2; MutS homolog 6; colon cancer; endometrial cancer; hereditary cancer; microsatellite instability; mismatch repair; sebaceous epithelioma; sebaceous neoplasm; urothelial cancer.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Biopsy
  • DNA Mismatch Repair / genetics
  • Facial Neoplasms / genetics
  • Facial Neoplasms / pathology*
  • Female
  • Germ-Line Mutation
  • Humans
  • Microsatellite Instability
  • Muir-Torre Syndrome / genetics
  • Muir-Torre Syndrome / pathology*
  • Urinary Bladder Neoplasms / genetics
  • Urinary Bladder Neoplasms / pathology*