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Posterior pharyngeal wall squamous cell carcinoma arising in a patient with dyskeratosis congenita

Published online by Cambridge University Press:  29 August 2012

A Qureishi ,
A Lamyman ,
P Silva  and
G Cox
A Qureishi
Affiliation:
Department of Otolaryngology, Head and Neck Surgery, John Radcliffe Hospital, Oxford, UK
A Lamyman*
Affiliation:
Department of Otolaryngology, Head and Neck Surgery, John Radcliffe Hospital, Oxford, UK
P Silva
Affiliation:
Department of Otolaryngology, Head and Neck Surgery, John Radcliffe Hospital, Oxford, UK
G Cox
Affiliation:
Department of Otolaryngology, Head and Neck Surgery, John Radcliffe Hospital, Oxford, UK
*
Address for correspondence: Dr A Lamyman, 14 Ramsay Road, Headington, Oxford OX3 8AX, UK Fax: +44 (0)1865 231200 E-mail: abigailsmithard@hotmail.com
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Abstract

Objectives:

Dyskeratosis congenita is a rare, inherited bone marrow failure syndrome characterised by telomerase dysfunction. This study aimed to demonstrate the importance of recognising that this condition predisposes individuals to head and neck malignancy, and also to discuss the challenges of treatment in such individuals.

Case report:

We present the case of a 30-year-old man with dyskeratosis congenita, who presented with a squamous cell carcinoma of the posterior pharyngeal wall. The patient was treated successfully with surgical resection.

Conclusion:

Dyskeratosis congenita is a rare condition; however, it is vital to recognise the increased risk of upper aerodigestive tract cancers in these patients. Management of such cancers can be particularly difficult in view of the need to avoid DNA-damaging therapies such as radiotherapy.

Keywords

HypopharynxPharynxDyskeratosis CongenitaSquamous Cell CarcinomaPathology
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 126 , Issue 12 , December 2012 , pp. 1299 - 1301
Copyright
Copyright © JLO (1984) Limited 2012

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References

1Cole, HN, Rauschkolb, JC, Toomey, J. Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Arch Bleg Dermatol Syphiligr 1930;21:71–95CrossRefGoogle Scholar
2Kirwan, M, Dokal, I. Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta 2009;1792:371–9CrossRefGoogle ScholarPubMed
3Zinsser, F. Atrophy of skin with reticular pigmentation, dystrophy of the nails, oral leukoplakia. Ikonogr Dermatol 1906;5:219–23Google Scholar
4Engman, MF. A unique case of reticular pigmentation of the skin with atrophy. Arch Dermatol Syphilol 1926;13:685–7Google Scholar
5Garcia, CK, Wright, WE, Shay, JW. Human diseases of telomerase dysfunction: insights into tissue aging. Nucleic Acids Res 2007;35:7406–16CrossRefGoogle ScholarPubMed
6Handley, TP, McCaul, JAOgden, JR. Dyskeratosis congenita. Oral Oncol 2006;42:331–6CrossRefGoogle ScholarPubMed
7Dokal, I. Dyskeratosis congenita: an inherited bone marrow failure syndrome. Br J Haematol 1996;92:775–9CrossRefGoogle ScholarPubMed
8Drachtman, RA, Alter, BP. Dyskeratosis congenita. Dermatol Clin 1995;13:33–9CrossRefGoogle ScholarPubMed
9Walne, AJ, Dokal, I. Advances in the understanding of dyskeratosis congenita. Br J Haematol 2009;145:164–72CrossRefGoogle ScholarPubMed
10Nishio, N, Kojima, S. Recent progress in dyskeratosis congenita. Int J Haematol 2010;92:19–24CrossRefGoogle ScholarPubMed
11Marrone, A, Walne, A, Dokal, I. Dykeratosis congenita: telomerase, telomeres and anticipation. Curr Opin Genet Dev 2005;15:249–57CrossRefGoogle ScholarPubMed
12Alter, BP, Giri, N, Savage, SA, Rosenberg, PS. Cancer in dyskeratosis congenita. Blood 2009;113:6549–57CrossRefGoogle ScholarPubMed
13Wald, C, Diner, H. Dyskeratosis congenita with associated periodontal disease. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1974;37:736–44CrossRefGoogle ScholarPubMed
14Yavuzyilmaz, E, Yamalik, N, Yetgin, S, Kansu, O. Oral-dental findings in dyskeratosis congenita. J Oral Pathol Med 1992;21:280–4CrossRefGoogle ScholarPubMed
15Cannell, H. Dyskeratosis congenita. Br J Oral Surg 1971;9:8–10CrossRefGoogle ScholarPubMed
16Sirinavin, C, Trowbridge, AA. Dyskeratosis congenita: clinical features and genetic aspects: report of a family and review of the literature. J Med Genet 1975;12:339–54CrossRefGoogle ScholarPubMed
17Davidson, HR, Connor, JM. Dyskeratosis congenita. J Med Genet 1988;25:843–6CrossRefGoogle ScholarPubMed
18Komune, N, Hara, T, Tamae, A, Izu, K, Tokura, Y, Joe, AK et al. A case of laryngeal carcinoma in a young adult with dyskeratosis congenita. Int J Clin Oncol 2010;15:428–32CrossRefGoogle Scholar
19Cengiz, M, Celebioglu, B, Ozyar, E, Atahan, IL. Unusual hypersensitivity to radiation therapy in a patient with dyskeratosis congenita syndrome. Oral Oncol 2004;40:758–9CrossRefGoogle Scholar
20Moretti, S, Spallanzani, A, Chiarugi, A, Muscarella, G, Battini, ML. Oral carcinoma in a young man: a case of dyskeratosis congenita. J Eur Acad Dermatol Venereol 2000;14:123–5CrossRefGoogle Scholar
21Hyodo, M, Sadamoto, A, Hinohira, Y, Yumoto, E. Tongue cancer as a complication of dyskeratosis congenita in a woman. Am J Otolaryngol 1999;20:405–7CrossRefGoogle ScholarPubMed
22Baykal, C, Kavak, A, Gülcan, P, Büyükbabani, N. Dyskeratosis congenita associated with three malignancies. J Eur Acad Dermatol Venereol 2003;17:216–18CrossRefGoogle ScholarPubMed