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

被引：4

作者：

Burkett, Andrew ^{[1
]}

Coffey, Niamh ^{[2
]}

Tomiak, Eva ^{[3
]}

Voduc, Nha ^{[1
]}

机构：

[1] Univ Ottawa, Ottawa Hosp, Div Resp Med, Ottawa, ON, Canada

[2] Univ Ottawa, Ottawa Hosp, Dept Med Imaging, Ottawa, ON, Canada

[3] Univ Ottawa, Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada

来源：

RESPIRATORY MEDICINE CASE REPORTS | 2016年 / 19卷

关键词：

Interstitial lung disease; Birt-Hogg-Dube; Cystic lung disease;

D O I：

10.1016/j.rmcr.2016.08.006

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

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. (C) 2016 The Authors. Published by Elsevier Ltd.

引用

页码：106 / 108

页数：3

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