Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-09-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043320302247 |
| _version_ | 1819051252923760640 |
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| author | Raphael T. Pagger Kaveh Akbari Franz A. Fellner Alexander Firmötz |
| author_facet | Raphael T. Pagger Kaveh Akbari Franz A. Fellner Alexander Firmötz |
| author_sort | Raphael T. Pagger |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T12:01:00Z |
| format | Article |
| id | doaj.art-b08614a3dbf845e2934e41a773a60c05 |
| institution | Directory Open Access Journal |
| issn | 1930-0433 |
| language | English |
| last_indexed | 2024-12-21T12:01:00Z |
| publishDate | 2020-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj.art-b08614a3dbf845e2934e41a773a60c052022-12-21T19:04:50ZengElsevierRadiology Case Reports1930-04332020-09-0115914641467Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case reportRaphael T. Pagger0Kaveh Akbari1Franz A. Fellner2Alexander Firmötz3Central Radiology Institute, Kepler University Hospital, Medical Faculty of the Johannes Kepler University, Krankenhausstraße 9, 4021 Linz, Austria; Corresponding author.Central Radiology Institute, Kepler University Hospital, Medical Faculty of the Johannes Kepler University, Krankenhausstraße 9, 4021 Linz, AustriaCentral Radiology Institute, Kepler University Hospital, Medical Faculty of the Johannes Kepler University, Krankenhausstraße 9, 4021 Linz, Austria; Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, GermanyCentral Radiology Institute, Kepler University Hospital, Medical Faculty of the Johannes Kepler University, Krankenhausstraße 9, 4021 Linz, AustriaBirt-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.http://www.sciencedirect.com/science/article/pii/S1930043320302247Birt-Hogg-Dubé syndrome (BHDS)FLCN genefibrofolliculomapulmonary cystsrenal tumors |
| spellingShingle | Raphael T. Pagger Kaveh Akbari Franz A. Fellner Alexander Firmötz Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report Radiology Case Reports Birt-Hogg-Dubé syndrome (BHDS) FLCN gene fibrofolliculoma pulmonary cysts renal tumors |
| title | Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report |
| title_full | Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report |
| title_fullStr | Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report |
| title_full_unstemmed | Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report |
| title_short | Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report |
| title_sort | secondary pneumothorax associated with birt hogg dube syndrome a case report |
| topic | Birt-Hogg-Dubé syndrome (BHDS) FLCN gene fibrofolliculoma pulmonary cysts renal tumors |
| url | http://www.sciencedirect.com/science/article/pii/S1930043320302247 |
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