Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report

Raphael T Pagger; Kaveh Akbari; Franz A Fellner; Alexander Firmötz

doi:10.1016/j.radcr.2020.05.049

Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report

Radiol Case Rep. 2020 Jul 3;15(9):1464-1467. doi: 10.1016/j.radcr.2020.05.049. eCollection 2020 Sep.

Authors

Raphael T Pagger¹, Kaveh Akbari¹, Franz A Fellner^{1

2}, Alexander Firmötz¹

Affiliations

¹ Central Radiology Institute, Kepler University Hospital, Medical Faculty of the Johannes Kepler University, Krankenhausstraße 9, 4021 Linz, Austria.
² Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.

Abstract

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant inherited disease. Typical clinical features include skin lesions, pulmonary cysts, and renal tumors. However, the syndrome remains to be underdiagnosed as a result of its heterogeneous clinical manifestation. In this report, we present the case of a 75-year-old male patient who was referred to the emergency department with pneumothorax, leading to the diagnosis of BHDS. Based on characteristic morphologic features, radiologists have the opportunity to propose BHDS as a differential diagnosis. Establishing the diagnosis in a timely manner is crucial, as these patients require lifelong screening examinations for renal cancer.

Keywords: Birt-Hogg-Dubé syndrome (BHDS); FLCN gene; fibrofolliculoma; pulmonary cysts; renal tumors.

Publication types

Case Reports