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Muir-Torre syndrome.

Abstract
A 65-year-old man with a history of multiple neoplastic and pre-neoplastic gastrointestinal lesions as well as urogenital carcinoma presented for evaluation of two asymptomatic skin-colored papules in the head and neck region. Biopsy revealed sebaceous neoplasms and immunohistochemical staining was negative for the presence of hMSH-2 protein in both specimens. These findings were consistent with a diagnosis of Muir-Torre syndrome in the setting of a prior history of visceral malignancies. Muir-Torre Syndrome is a rare autosomal dominant genodermatosis associated with mutations in mismatch repair proteins, hMSH-2 and hMLH-1, which predispose affected patients to visceral malignancies as well as sebaceous gland neoplasms.
AuthorsDaniel Navi, Akhil Wadhera, Maxwell A Fung, Nasim Fazel
JournalDermatology online journal (Dermatol Online J) Vol. 12 Issue 5 Pg. 4 (Sep 08 2006) ISSN: 1087-2108 [Electronic] United States
PMID16962019 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • MLH1 protein, human
  • Nuclear Proteins
  • MSH2 protein, human
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein
Topics
  • Adaptor Proteins, Signal Transducing
  • Adenocarcinoma, Sebaceous (genetics, pathology)
  • Adenoma (genetics, pathology)
  • Carcinoma, Squamous Cell (genetics)
  • Carrier Proteins (genetics)
  • DNA Repair
  • Gastrointestinal Neoplasms (genetics)
  • Humans
  • Male
  • Middle Aged
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein (genetics)
  • Mutation
  • Nuclear Proteins (genetics)
  • Sebaceous Gland Neoplasms (genetics, pathology)
  • Syndrome

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