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Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families.
Br J Dermatol. 2005 Jun; 152(6):1335-8.BJ

Abstract

The Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the presence of sebaceous gland tumours, with or without keratoacanthomas, associated with visceral malignancies. We describe and characterize two families in which the ample phenotypic variability of MTS was evident. After clinical evaluation, the skin and visceral tumours of one member of a family with 'classic' MTS and one member of a family with a 'peculiar' MTS phenotype without sebaceous lesions, but with only multiple keratoacanthomas, were analysed for microsatellite instability (MSI) and by immunohistochemistry. Tumours of both individuals showed MSI, with a concomitant lack of MSH2 immunostaining in all evaluated skin and visceral lesions; moreover, in the proband of family 2 a constitutional mutation (C-->T substitution leading to a stop codon) in the MSH2 gene was identified. We conclude that the diagnosis of MTS, which is mainly clinical, should take into account an ample phenotypic variability, which includes both cases with typical cancer aggregation in families and cases characterized by the association of visceral malignancies with multiple keratoacanthomas (without sebaceous lesions), without an apparent family history of cancer.

Authors+Show Affiliations

Division of Internal Medicine, Department of Medicine, University of Modena and Reggio Emilia, Via del Pozzo 71, Policlinico, 41100 Modena, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

15949004

Citation

Ponti, G, et al. "Different Phenotypes in Muir-Torre Syndrome: Clinical and Biomolecular Characterization in Two Italian Families." The British Journal of Dermatology, vol. 152, no. 6, 2005, pp. 1335-8.
Ponti G, Ponz de Leon M, Losi L, et al. Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families. Br J Dermatol. 2005;152(6):1335-8.
Ponti, G., Ponz de Leon, M., Losi, L., Di Gregorio, C., Benatti, P., Pedroni, M., Scarselli, A., Riegler, G., Lembo, L., Pellacani, G., Seidenari, S., Rossi, G., & Roncucci, L. (2005). Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families. The British Journal of Dermatology, 152(6), 1335-8.
Ponti G, et al. Different Phenotypes in Muir-Torre Syndrome: Clinical and Biomolecular Characterization in Two Italian Families. Br J Dermatol. 2005;152(6):1335-8. PubMed PMID: 15949004.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families. AU - Ponti,G, AU - Ponz de Leon,M, AU - Losi,L, AU - Di Gregorio,C, AU - Benatti,P, AU - Pedroni,M, AU - Scarselli,A, AU - Riegler,G, AU - Lembo,L, AU - Pellacani,G, AU - Seidenari,S, AU - Rossi,G, AU - Roncucci,L, PY - 2005/6/14/pubmed PY - 2005/8/5/medline PY - 2005/6/14/entrez SP - 1335 EP - 8 JF - The British journal of dermatology JO - Br J Dermatol VL - 152 IS - 6 N2 - The Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the presence of sebaceous gland tumours, with or without keratoacanthomas, associated with visceral malignancies. We describe and characterize two families in which the ample phenotypic variability of MTS was evident. After clinical evaluation, the skin and visceral tumours of one member of a family with 'classic' MTS and one member of a family with a 'peculiar' MTS phenotype without sebaceous lesions, but with only multiple keratoacanthomas, were analysed for microsatellite instability (MSI) and by immunohistochemistry. Tumours of both individuals showed MSI, with a concomitant lack of MSH2 immunostaining in all evaluated skin and visceral lesions; moreover, in the proband of family 2 a constitutional mutation (C-->T substitution leading to a stop codon) in the MSH2 gene was identified. We conclude that the diagnosis of MTS, which is mainly clinical, should take into account an ample phenotypic variability, which includes both cases with typical cancer aggregation in families and cases characterized by the association of visceral malignancies with multiple keratoacanthomas (without sebaceous lesions), without an apparent family history of cancer. SN - 0007-0963 UR - https://www.unboundmedicine.com/medline/citation/15949004/Different_phenotypes_in_Muir_Torre_syndrome:_clinical_and_biomolecular_characterization_in_two_Italian_families_ L2 - https://doi.org/10.1111/j.1365-2133.2005.06506.x DB - PRIME DP - Unbound Medicine ER -