Familial pneumothoraces - Birt-Hogg-Dubé syndrome. Differentiation with other cystic lung diseases

Lucyna Opoka; Jacek Wakulinski; Jolanta Winek; Iwona Bestry; Katarzyna Błasinska; Elżbieta Radzikowska

doi:10.5114/pjr.2019.89964

Familial pneumothoraces - Birt-Hogg-Dubé syndrome. Differentiation with other cystic lung diseases

Pol J Radiol. 2019 Oct 28:84:e424-e429. doi: 10.5114/pjr.2019.89964. eCollection 2019.

Authors

Lucyna Opoka¹, Jacek Wakulinski¹, Jolanta Winek², Iwona Bestry¹, Katarzyna Błasinska¹, Elżbieta Radzikowska³

Affiliations

¹ Department of Radiology, National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland.
² Outpatient Department, National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland.
³ 3 Department of Lung Diseases, National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland.

Abstract

Birt-Hogg-Dubé syndrome (BHDS) is a rare, genetic, autosomal dominant disease caused by mutation in a folliculin gene. This syndrome is characterised by three main symptoms: benign lesions originating from hair follicles, variously shaped cysts in the lungs, and various types of benign and malignant kidney neoplasms. In our article we are going to present cases of two sisters with BHDS. In the case of the first sister skin lesions were accompanied by lung abnormalities. The second sister, however, presented with recurrent pneumothoraces associated with variously shaped lung cysts located mainly below the tracheal carina. In both instance diagnosis was confirmed by genetic test.

Keywords: Birt-Hogg-Dubé syndrome; cystic lung diseases; pneumothorax; recurrent pneumothoraces.

Publication types

Case Reports