Abstract
We experienced a case of familial spontaneous pneumothorax (SP) without apparent underlying connective tissue disease. A 30-year-old man was referred to our hospital complaining of slight dyspnea and right chest pain due to recurrent SP. The patient had two episodes of primary SP of the right lung, and received chest tube drainage, pleurodesis and surgical bullectomy. Otherwise, his father and two elder sisters also had relapsed primary SP in spite of recurrent prevention therapies. This transmission pattern of the disease phenotype suggested an autosomal dominant inheritance. There have been improvements in pathogenesis, diagnostic procedures and recurrence prevention therapies, but this familial case still suffers from recurrent SP. This familial case may strongly require a new therapeutic strategy for familial SP.
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