Pneumothorax, primary spontaneous

Birt-Hogg-Dube syndrome (BHD; {135150}), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is caused by mutation in the FLCN gene. {5:Gunji et al. (2007)} suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome ({154700}) and the Ehlers-Danlos syndrome (see, e.g., {130000}). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency ({613490}).