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.
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Authors | Daniel Navi, Akhil Wadhera, Maxwell A Fung, Nasim Fazel |
Journal | Dermatology online journal
(Dermatol Online J)
Vol. 12
Issue 5
Pg. 4
(Sep 08 2006)
ISSN: 1087-2108 [Electronic] United States |
PMID | 16962019
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Adaptor Proteins, Signal Transducing
- Carrier Proteins
- MLH1 protein, human
- Nuclear Proteins
- MSH2 protein, human
- MutL Protein Homolog 1
- MutS Homolog 2 Protein
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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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