• Respirology · Jul 2009

    Case Reports

    Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family.

    • Shun-Yang So.
    • Department of Medicine, University of Hong Kong, Hong Kong, China. syso@hkucc.hku.hk
    • Respirology. 2009 Jul 1; 14 (5): 775-6.

    AbstractA 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.

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