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Published in: Journal of Medical Case Reports 1/2014

Open Access 01-12-2014 | Case report

Oral manifestations of hereditary nonpolyposis colorectal cancer syndrome: a family case series

Authors: Fabiana Tolentino Almeida, Raquel Ribeiro Gomes, André Ferreira Leite, João Batista Sousa, Ana Carolina Acevedo, Eliete Neves Silva Guerra

Published in: Journal of Medical Case Reports | Issue 1/2014

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Abstract

Introduction

Hereditary nonpolyposis colorectal cancer is a colorectal cancer syndrome characterized by the development of colorectal cancer and extracolonic tumors, and this syndrome has an autosomal dominant mode of inheritance. To our knowledge, our study was the first to find dento-osseous anomalies and the second to observe Fordyce granules in a family with individuals with hereditary nonpolyposis colorectal cancer.

Case presentations

Twenty members of one Brazilian family with individuals with hereditary nonpolyposis colorectal cancer were analyzed according to the presence of colorectal cancer and the occurrence of Fordyce granules and dento-osseous anomalies. Their average age was 29.6 (range 7 to 53 years) years. Medical examinations of this family with hereditary nonpolyposis colorectal cancer were performed at the Coloproctology Division of our hospital. Then, all individuals were referred to our Oral Care Center for Inherited Diseases for intraoral examinations to verify the presence of Fordyce granules. Dental panoramic radiographs were done in order to describe dento-osseous anomalies on applying the Dental Panoramic Radiograph System. Of the 20 family members, four were diagnosed with hereditary nonpolyposis colorectal cancer and all four presented Fordyce granules in their upper lip, but only one of these four patients (Case 2) had a significant dento-osseous anomaly.

Conclusions

Our familial study verified the presence of Fordyce granules in all individuals diagnosed with hereditary nonpolyposis colorectal cancer, and the presence of significant dento-osseous anomalies in one of these cases. However, the relationship between oral manifestations and hereditary nonpolyposis colorectal cancer should be further investigated.
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Literature
2.
4.
go back to reference Vasen HFA, Mecklin JP, Meera Khan P, Lynch HT: The International Collaborative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum. 1991, 34: 424-425.CrossRefPubMed Vasen HFA, Mecklin JP, Meera Khan P, Lynch HT: The International Collaborative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum. 1991, 34: 424-425.CrossRefPubMed
5.
go back to reference Vasen HFA, Watson P, Mecklin JP: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999, 116: 1453-1456.CrossRefPubMed Vasen HFA, Watson P, Mecklin JP: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999, 116: 1453-1456.CrossRefPubMed
6.
7.
go back to reference Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR: Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet. 2009, 76: 1-18.CrossRefPubMedPubMedCentral Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR: Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet. 2009, 76: 1-18.CrossRefPubMedPubMedCentral
8.
go back to reference Da Silva FC, De Oliveira LP, Santos EM, Nakagawa WT, Aguiar Junior S, Valentin MD, Rossi BM, de Oliveira Ferreira F: Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. Fam Cancer. 2010, 9: 563-570.CrossRefPubMed Da Silva FC, De Oliveira LP, Santos EM, Nakagawa WT, Aguiar Junior S, Valentin MD, Rossi BM, de Oliveira Ferreira F: Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. Fam Cancer. 2010, 9: 563-570.CrossRefPubMed
9.
go back to reference De Felice C, Latini G, Bianciardi G, Parrini S, Fadda GM, Marini M, Laurini RN, Kopotic RJ: Abnormal vascular network complexity: a new phenotypical marker in Lynch cancer family syndrome II. Gut. 2003, 52: 1764-1767.CrossRefPubMedPubMedCentral De Felice C, Latini G, Bianciardi G, Parrini S, Fadda GM, Marini M, Laurini RN, Kopotic RJ: Abnormal vascular network complexity: a new phenotypical marker in Lynch cancer family syndrome II. Gut. 2003, 52: 1764-1767.CrossRefPubMedPubMedCentral
10.
go back to reference De Felice C, Parrini S, Chitano G, Gentile M, Dipaola L, Latini G: Fordyce granules and hereditary non-polyposis colorectal cancer syndrome. Gut. 2005, 54: 1279-1282.CrossRefPubMedPubMedCentral De Felice C, Parrini S, Chitano G, Gentile M, Dipaola L, Latini G: Fordyce granules and hereditary non-polyposis colorectal cancer syndrome. Gut. 2005, 54: 1279-1282.CrossRefPubMedPubMedCentral
11.
go back to reference De Felice C, Gentile M, Barducci A, Bellosi A, Parrini S, Chitano G, Latini G: Abnormal oral mucosal light reflectance: a new clinical marker of high risk for colorectal cancer. Gut. 2006, 55: 1436-1439.CrossRefPubMedPubMedCentral De Felice C, Gentile M, Barducci A, Bellosi A, Parrini S, Chitano G, Latini G: Abnormal oral mucosal light reflectance: a new clinical marker of high risk for colorectal cancer. Gut. 2006, 55: 1436-1439.CrossRefPubMedPubMedCentral
12.
go back to reference Allen M, Grachtchouk M, Sheng H, Grachtchouk V, Wang A, Wei L, Liu J, Ramirez A, Metzger D, Chambon P, Jorcano J, Dlugosz AA: Hedgehog signaling regulates sebaceous gland development. Am J Pathol. 2003, 163: 2173-2178.CrossRefPubMedPubMedCentral Allen M, Grachtchouk M, Sheng H, Grachtchouk V, Wang A, Wei L, Liu J, Ramirez A, Metzger D, Chambon P, Jorcano J, Dlugosz AA: Hedgehog signaling regulates sebaceous gland development. Am J Pathol. 2003, 163: 2173-2178.CrossRefPubMedPubMedCentral
13.
14.
go back to reference Watkins DN, Peacock CD: Hedgehog signalling in foregut malignancy. Biochem Pharmacol. 2004, 68: 1055-1060.CrossRefPubMed Watkins DN, Peacock CD: Hedgehog signalling in foregut malignancy. Biochem Pharmacol. 2004, 68: 1055-1060.CrossRefPubMed
15.
16.
go back to reference Reichart PA: Oral mucosal lesions in a representative cross-sectional study of aging Germans. Community Dent Oral Epidemiol. 2000, 28: 390-398.CrossRefPubMed Reichart PA: Oral mucosal lesions in a representative cross-sectional study of aging Germans. Community Dent Oral Epidemiol. 2000, 28: 390-398.CrossRefPubMed
17.
go back to reference Jahanbani J, Sandvik L, Lyberg T, Ahlfors E: Evaluation of oral mucosal lesions in 598 referred Iranian patients. Open Dent J. 2009, 27: 42-47.CrossRef Jahanbani J, Sandvik L, Lyberg T, Ahlfors E: Evaluation of oral mucosal lesions in 598 referred Iranian patients. Open Dent J. 2009, 27: 42-47.CrossRef
19.
go back to reference Ferreira RC, Magalhães CS, Moreira AN: Oral mucosal alterations among the institutionalized elderly in Brazil. Braz Oral Res. 2010, 24: 296-302.PubMed Ferreira RC, Magalhães CS, Moreira AN: Oral mucosal alterations among the institutionalized elderly in Brazil. Braz Oral Res. 2010, 24: 296-302.PubMed
20.
go back to reference Gardner EJ: Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am J Hum Genet. 1962, 14: 376-390.PubMedPubMedCentral Gardner EJ: Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am J Hum Genet. 1962, 14: 376-390.PubMedPubMedCentral
21.
22.
go back to reference Thakker N, Davies R, Horner K, Armstrong J, Clancy T, Guy S, Harris R, Sloan P, Evans G: The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs. J Med Genet. 1995, 32: 458-464.CrossRefPubMedPubMedCentral Thakker N, Davies R, Horner K, Armstrong J, Clancy T, Guy S, Harris R, Sloan P, Evans G: The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs. J Med Genet. 1995, 32: 458-464.CrossRefPubMedPubMedCentral
23.
go back to reference Agarwall VR, Sloan P, Horner K, Macfarlane TV, Clancy T, Evans G, Thakker N: Dento-osseous changes as diagnostic markers in familial adenomatous polyposis families. Oral Dis. 2003, 9: 29-33.CrossRef Agarwall VR, Sloan P, Horner K, Macfarlane TV, Clancy T, Evans G, Thakker N: Dento-osseous changes as diagnostic markers in familial adenomatous polyposis families. Oral Dis. 2003, 9: 29-33.CrossRef
Metadata
Title
Oral manifestations of hereditary nonpolyposis colorectal cancer syndrome: a family case series
Authors
Fabiana Tolentino Almeida
Raquel Ribeiro Gomes
André Ferreira Leite
João Batista Sousa
Ana Carolina Acevedo
Eliete Neves Silva Guerra
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2014
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/1752-1947-8-249

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