Table 1

 Clinical data of the eight subjects

PatientSexAge*No. and location of PTX episodes§Smoking historyMedical historyFamily history of PTXFamily history of carcinoma/neoplasm‡No of pulmonary cysts
PCOS, polycystic ovary syndrome; PTX, spontaneous pneumothorax.
*Age (years) at the first PTX is shown. Age at enrolment in the study is indicated in parentheses.
†Age at first visit to our hospital, as patient B5 never had spontaneous pneumothorax.
‡The family members of B3, B6 and B7 had kidney neoplasm, but no detailed information on the pathological subtype was obtained.
§L, left-sided pneumothorax; R, right-sided pneumothorax; number of pneumothorax episodes in parentheses.
¶Stage IA adenocarcinoma of the right upper lobe. Resection of right upper lobe with anterolateral thoracotomy was performed.
B1F23 (30)L (1) R (1)NeverEndometriosis, PCOS, ovarian cyst, lipomaBrother, auntGrandfather, uncle (no details), grandmother (colon)23
B2F16 (38)L (3) R (3)20–34 years, 2.2 pack-yearsMyoma of the uterus, ureterolithiasisCousinGrandmother (liver)134
B3F25 (40)L (3) R (2)NeverNoneFather, brotherFather (kidney)71
B4F49 (83)Unknown (1)NeverPyothorax, myoma of the uterus, chronic pancreatitis, gallstone disease, sinusitisNoneFather (tonsil), mother (liver)387
B5M26† (30)None20–22 years, 0.45 pack-yearsColon polypNoneGrandmother (lung), aunt (oesophageal), mother (uterus), sister (colon polyp)552
B6F35 (37)L (1) R (1)NeverMyoma of the uterus, gastric polypFather, uncle, aunts, cousinsGrandmother (lung), aunt (kidney)14
B7F28 (38)L (2) R (1)20–25 years, 0.6 pack-yearsVocal cord nodules, myoma of the uterus, carcinoma of thyroid gland, recurrent tonsillitisGrandmother, motherGreat-grandmother (stomach), grandmother (uterus), great-uncles and aunts (stomach, breast, thyroid gland, lung), mother (kidney, thyroid gland)17
B8M37 (38)L (0) R (2)20–38 years, 72 pack-yearsLung cancer¶NoneNone17