ISSN: 1899-0967
Polish Journal of Radiology
Established by prof. Zygmunt Grudziński in 1926 Sun
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2019
vol. 84
 
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Chest radiology
abstract:
Case report

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

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

© Pol J Radiol 2019; 84: e424-e429
Online publish date: 2019/10/28
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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, recurrent pneumothoraces, pneumothorax

 
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