Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome

نویسندگان

  • Andrew Burkett
  • Niamh Coffey
  • Eva Tomiak
  • Nha Voduc
چکیده

Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin (FLCN) gene.

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Pneumomediastinum and striking family history: uncommon case of Birt-Hogg-Dubé syndrome.

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New Mutation in the Birt Hogg Dube Gene.

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Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.

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عنوان ژورنال:

دوره 19  شماره 

صفحات  -

تاریخ انتشار 2016