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Spontaneous pneumothorax due to Birt‐Hogg‐Dube syndrome in a Chinese family
Author(s) -
SO ShunYang
Publication year - 2009
Publication title -
respirology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.857
H-Index - 85
eISSN - 1440-1843
pISSN - 1323-7799
DOI - 10.1111/j.1440-1843.2009.01558.x
Subject(s) - birt–hogg–dubé syndrome , medicine , folliculin , pneumothorax , dermatology , surgery , genetics , gene , biology
A Chinese woman presented with a spontaneous pneumothorax and a family history suggestive of the autosomal dominant transmission of pneumothorax. The patient also had skin fibrofolliculomas and folliculin gene deletion, compatible with Birt‐Hogg‐Dube (BHD) syndrome. The importance of BHD syndrome and other familial spontaneous pneumothoraces is discussed.