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Published in: Journal of Medical Case Reports 1/2010

Open Access 01-12-2010 | Case report

Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature

Authors: Geoffrey Warwick, Louise Izatt, Elizabeth Sawicka

Published in: Journal of Medical Case Reports | Issue 1/2010

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Abstract

Introduction

Birt-Hogg-Dubé syndrome is a rare genodermatosis characterized by hair follicle hamartomas, renal tumors and spontaneous pneumothorax. We present the case of a patient with pulmonary cysts and recurrent spontaneous pneumothorax. She had typical skin lesions, and was found to have a hybrid oncocytoma which was surgically excised.

Case presentation

A 60-year-old Caucasian woman had a 10-year history of cystic lung disease and recurrent spontaneous pneumothoraces. She was noted to have papular lesions over her face and forehead. The result of a biopsy showed these lesions to be fibrofolliculomas. A diagnosis of Birt-Hogg-Dubé syndrome was made and she was screened for renal tumors since these are a recognized association. A hybrid oncocytoma was detected which was surgically excised by partial nephrectomy.

Conclusion

It is important to consider a possible diagnosis of Birt-Hogg-Dubé syndrome in cases of recurrent pneumothorax. Affected individuals must be screened for renal tumors, a potentially lethal consequence of this syndrome.
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Metadata
Title
Renal cancer associated with recurrent spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of the literature
Authors
Geoffrey Warwick
Louise Izatt
Elizabeth Sawicka
Publication date
01-12-2010
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2010
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/1752-1947-4-106

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