Figure 4.

History, physical examination, and imaging findings that raise the possibility of a syndromic cause of pneumothorax. The major features (x-axis) of syndromes predisposing to pneumothorax (y-axis) are shown. Personal history/family history/physical examination findings are in blue. Imaging findings are in red. The skin findings of Birt-Hogg-Dubé syndrome (BHDS) are age dependent; thus, skin examinations of the parents or even grandparents may at times be more informative than for the proband. A1ATD = alpha-1 antitrypsin deficiency; CF = cystic fibrosis; LDS = Loeys-Dietz syndrome; TSC-LAM = lymphangioleiomyomatosis in an individual with tuberous sclerosis; vEDS = vascular Ehlers-Danlos syndrome.