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Title
Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family.
Authors
So, Shun-Yang
Abstract
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.