Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology.
BMJ Case Rep
; 12(9)2019 Sep 06.
Article
em En
| MEDLINE
| ID: mdl-31494588
ABSTRACT
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition which classically manifests with skin lesions such as fibrofolliculomas, pulmonary cysts that predispose to spontaneous pneumothorax and an increased risk of developing renal cell carcinoma. We describe the case of a patient who presented with a spontaneous pneumothorax on a background of multiple lung cysts, in the absence of cutaneous fibrofolliculomas and renal tumours. A germline mutation in the folliculin FLCN gene was subsequently identified, confirming BHD syndrome. Our case highlights the importance of considering a broad differential diagnosis for the cause of a spontaneous pneumothorax in the presence of unexplained cystic lung disease and emphasises the value of maintaining a high index of clinical suspicion for inherited causes of pneumothoraces.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Apicectomia
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Pneumotórax
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Drenagem
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Síndrome de Birt-Hogg-Dubé
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Neoplasias Renais
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Pneumopatias
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Male
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Middle aged
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2019
Tipo de documento:
Article