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Birt–Hogg–Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15‐year‐old

Birt–Hogg–Dubé (BHD) syndrome is a rare, autosomal dominant disorder caused by a germline mutation in the folliculin gene (17p11.2). It is characterized by benign skin lesions, renal tumours, and pulmonary cysts, with pneumothoraces seen exceptionally rarely in patients younger than 40 years. We rep...

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Detalles Bibliográficos
Autores principales: Ardolino, Luke, Silverstone, Elizabeth, Varjavandi, Vincent, Yates, Deborah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312278/
https://www.ncbi.nlm.nih.gov/pubmed/32595975
http://dx.doi.org/10.1002/rcr2.610
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author Ardolino, Luke
Silverstone, Elizabeth
Varjavandi, Vincent
Yates, Deborah
author_facet Ardolino, Luke
Silverstone, Elizabeth
Varjavandi, Vincent
Yates, Deborah
author_sort Ardolino, Luke
collection PubMed
description Birt–Hogg–Dubé (BHD) syndrome is a rare, autosomal dominant disorder caused by a germline mutation in the folliculin gene (17p11.2). It is characterized by benign skin lesions, renal tumours, and pulmonary cysts, with pneumothoraces seen exceptionally rarely in patients younger than 40 years. We report the case of a 15‐year‐old boy who presented with sudden onset left‐sided chest pain and acute dyspnoea secondary to a large left‐sided pneumothorax. This failed to resolve despite chest drain insertion and he required video‐assisted thoracoscopic surgical pleurodesis, which revealed macroscopic pulmonary cyst formation. Following this, he made a good recovery and a further high‐resolution computerized tomography (CT) scan of his chest identified multiple, small, subpleural parenchymal lung cysts that were not initially visible on prior imaging. Further questioning revealed a strong family history of spontaneous pneumothoraces and additional genomic sequencing, and confirmed a diagnosis of BHD syndrome. We highlight the diagnostic, management, and surveillance challenges for this rare syndrome.
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spelling pubmed-73122782020-06-25 Birt–Hogg–Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15‐year‐old Ardolino, Luke Silverstone, Elizabeth Varjavandi, Vincent Yates, Deborah Respirol Case Rep Case Reports Birt–Hogg–Dubé (BHD) syndrome is a rare, autosomal dominant disorder caused by a germline mutation in the folliculin gene (17p11.2). It is characterized by benign skin lesions, renal tumours, and pulmonary cysts, with pneumothoraces seen exceptionally rarely in patients younger than 40 years. We report the case of a 15‐year‐old boy who presented with sudden onset left‐sided chest pain and acute dyspnoea secondary to a large left‐sided pneumothorax. This failed to resolve despite chest drain insertion and he required video‐assisted thoracoscopic surgical pleurodesis, which revealed macroscopic pulmonary cyst formation. Following this, he made a good recovery and a further high‐resolution computerized tomography (CT) scan of his chest identified multiple, small, subpleural parenchymal lung cysts that were not initially visible on prior imaging. Further questioning revealed a strong family history of spontaneous pneumothoraces and additional genomic sequencing, and confirmed a diagnosis of BHD syndrome. We highlight the diagnostic, management, and surveillance challenges for this rare syndrome. John Wiley & Sons, Ltd 2020-06-24 /pmc/articles/PMC7312278/ /pubmed/32595975 http://dx.doi.org/10.1002/rcr2.610 Text en © 2020 The Authors. Respirology Case Reports published by John Wiley & Sons Australia, Ltd on behalf of The Asian Pacific Society of Respirology This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Ardolino, Luke
Silverstone, Elizabeth
Varjavandi, Vincent
Yates, Deborah
Birt–Hogg–Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15‐year‐old
title Birt–Hogg–Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15‐year‐old
title_full Birt–Hogg–Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15‐year‐old
title_fullStr Birt–Hogg–Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15‐year‐old
title_full_unstemmed Birt–Hogg–Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15‐year‐old
title_short Birt–Hogg–Dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15‐year‐old
title_sort birt–hogg–dubé syndrome presenting with macroscopic pulmonary cyst formation in a 15‐year‐old
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312278/
https://www.ncbi.nlm.nih.gov/pubmed/32595975
http://dx.doi.org/10.1002/rcr2.610
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