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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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