Familial spontaneous pneumothorax

Primary spontaneous pneumothorax (PSP) is a condition in which air enters the pleural space and causes secondary lung collapse. It is mostly sporadic but also occurs in families. It is associated with bullae in the lungs of most patients (summary by Painter et al., 2005). 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 also caused by mutation in the FLCN gene. 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). [from OMIM]