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Muir-Torre syndrome.

Anne M Lachiewicz1, Todd M Wilkinson, Pamela Groben

  • 1Department of Dermatology, University of North Carolina School of Medicine, Chapel Hill, North Carolina 27599-7287, USA.

American Journal of Clinical Dermatology
|October 2, 2007
PubMed
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Muir-Torre syndrome (MTS) is a rare condition linking sebaceous skin tumors with internal cancers. Immunohistochemistry revealing absent MLH1 protein in a colon tumor aids in diagnosing MTS, a variant of hereditary non-polyposis colorectal cancer.

Area of Science:

  • Oncology
  • Dermatology
  • Genetics

Background:

  • Muir-Torre syndrome (MTS) is a rare genodermatosis characterized by sebaceous neoplasms and internal malignancies.
  • It is often associated with hereditary non-polyposis colorectal cancer (HNPCC), involving DNA mismatch repair gene mutations.

Observation:

  • A case report details a 47-year-old man with a history of colon cancer and keratoacanthoma presenting with sebaceous carcinoma.
  • Immunohistochemical analysis of his colonic tumor showed a lack of MutL homolog (MLH)-1 protein.
  • Cystic sebaceous neoplasms can be specific markers for MTS.

Findings:

  • MTS involves sebaceous neoplasms and internal malignancies, frequently colorectal cancers proximal to the splenic flexure.
  • Absence of MLH1 protein in tumors suggests MTS, a variant of HNPCC.

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  • While MTS tumors may be indolent, standard cancer therapies and vigilant follow-up are crucial.

    • Implications:

    • Consider MTS in patients with sebaceous neoplasms; immunohistochemistry for MSH2 and MLH1 proteins can screen for the condition.
    • Regular colonoscopies (every 1-2 years from age 20-25) are recommended for individuals at risk.
    • Annual physicals, skin exams, and specific screenings for women are advised for high-risk patients.