Pneumomediastinum and Striking Family History: Uncommon Case of Birt-Hogg-Dube Syndrome

被引：2

作者：

Michels, Guido ^{[1
]}

Erdmann, Erland ^{[1
]}

Schmidt, Winfried

Frank, Konrad F. ^{[1
]}

Pfister, Roman ^{[1
]}

机构：

[1] Univ Cologne, Dept Internal Med 3, Cologne, Germany

来源：

INTERNAL MEDICINE | 2012年 / 51卷 / 15期

关键词：

Birt-Hogg-Dube syndrome; genetic disorder; pneumomediastinum; MANAGEMENT; DIAGNOSIS; EMPHYSEMA;

D O I：

10.2169/internalmedicine.51.7199

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Birt-Hogg-Dube syndrome is a rare autosomal dominant condition caused by a germline mutation in the folliculin gene, which is characterized by skin fibrofolliculomas, multiple lung cysts and renal cancer. The clinical expression of the syndrome is highly variable, with recurrent pneumothoraces due to ruptured lung cysts in many cases. We report a patient with pneumomediastinum and cervico-facial emphysema after severe coughing without pneumothorax, skin lesions or renal tumour, but a striking family history of lung abnormalities.

引用

页码：2007 / 2009

页数：3

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