alexa Brit Hogg Dube Syndrome - A Rare Disease Entity with Review of Literature
ISSN: 2165-7920

Journal of Clinical Case Reports
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Case Report

Brit Hogg Dube Syndrome - A Rare Disease Entity with Review of Literature

Rashmi K1*, Arbind D2, Patanjali C3 and Kunal G3
1Associate Professor, University of Saskatchewan, Staff Radiation Oncologist, Allan Blair Cancer Centre 4101 Dewdney Ave, Regina SK, Canada
2Assistant Professor, University of Saskatchewan, Staff Radiation Oncologist, Allan Blair Cancer Centre 4101 Dewdney Ave, Regina SK, Canada
3Radiologist, Regina Qu’Appelle Health Region, 1440 - 14th Avenue Regina, SK, S4P0W5, Canada
Corresponding Author : Rashmi Koul MD, FRCPC
Oncologist, Dept of Radiation Oncology
Allan Blair Cancer Centre 4101, Dewdney Ave
Regina SK S4T7T1, Canada
Tel: 306-7662296
Fax: 1-306-7662845
E-mail: [email protected]
Received May 28, 2012; Accepted July 21, 2012; Published July 23, 2012
Citation: Rashmi K, Arbind D, Patanjali C, Kunal G (2012) Brit Hogg Dube Syndrome - A Rare Disease Entity with Review of Literature. J Clin Case Rep 2:175. doi:10.4172/2165-7920.1000175
Copyright: © 2012 Rashmi K, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
 

Abstract

Introduction: Birt-Hogg-Dubé Syndrome is very uncommon in the North America. Several families have been reported since Birt, Hogg, and Dubé described the original kindred in 1977. Birt-Hogg-Dubé Syndrome (BHDS) is inherited in an autosomal dominant pattern and may be due to inactivation of a tumor-suppressor gene, which results in the various skin lesions such as cutaneous hamartomas and risk of internal malignancies. We report a rare case of Birt-Hogg-Dubé Syndrome who presented with lung sarcoma no skin manifestation which is the usual presentation as seen in literature. Case Report: A 25-year-old female presented with some vague chest and abdominal symptoms. CT of the chest showed a mass in the left upper lobe and a cyst in the lung. She underwent left side upper lobectomy. Pathology reported low grade sarcoma, but was otherwise nonspecific. She had small lung cysts in lower lobe consistent with a history of Birt-Hogg-Dube syndrome. At 3 years follow up, patient doing very well. Genetic testing confirmed syndrome in family. Discussion: Mortality and morbidity associated with Birt-Hogg-Dubé syndrome is related to internal manifestations such as pneumothorax or renal cell carcinoma. The morbidity of cutaneous lesions is limited to cosmetic appearance. Surgical removal has provided definitive treatment of solitary perifollicular fibromas. Birt-Hogg-Dubé syndrome patients with a history of smoking appear to have more severe lung disease than those who do not smoke. Conclusion: Birt-Hogg-Dubé Syndrome (BHDS) cannot be prevented, but associated findings of renal carcinoma, pulmonary cysts and pneumothorax can be monitored. Birt-Hogg-Dubé syndrome patients should be counseled regarding the increased risk of pneumothorax with activities altering ambient pressure, such as scuba diving and air travel, particularly if they have chest pain or shortness of breath. Smoking cessation in BHDS patients should be strongly encouraged.

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