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Familial spontaneous pneumothorax is one of the phenotypes of Birt-Hogg-Dubé syndrome (BHDS), an autosomal dominant condition associated with folliculin (FLCN). We investigated clinical and genetic data of an Indian family having two patients suffering from spontaneous pneumothorax in the absence of skin lesions or renal tumors. HRCT scan of patient's lung revealed paracardiac cysts, and DNA sequencing of all 14 exons of FLCN from patients showed the presence of heterozygous "C allele" deletion in the poly-cytosine (poly-C) tract of exon 11 leading to truncated folliculin. This mutation was also observed in four asymptomatic members of the family. Our results confirmed the presence of deletion mutation in poly-C tract of FLCN in members of BHDS family. This is the first report of genetic insight in a BHDS family from India but in-depth studies with a larger sample set are necessary to understand mechanism of familial pneumothorax.

Context: Pneumothorax continues to be a major cause of morbidity and mortality among respiratory patients, but there is a paucity of data regarding etiology, clinical profile, management, and outcome of spontaneous pneumothorax (SP), from this part of the world. Aims: To assess the patients of spontaneous pneumothorax in adults with special reference to the etiology, clinical presentation, management, and outcome of SP. Settings and Design: Prospective, observational study conducted in a tertiary care institution over a period of one year. Materials and Methods: All adult patients of SP attending the department of pulmonary medicine in a tertiary hospital were studied and detailed clinical, radiological, and management data were recorded and analyzed. Results: Sixty consecutive patients, who satisfied the inclusion criteria were included in the study. Among them 10 had primary spontaneous pneumothorax (PSP) and 50 had secondary spontaneous pneumothorax (SSP). The overall male to female ratio was 4:1. The mean age of the PSP patients was 26.3 ± 2.19 years, whereas, that of the SSP patients was 53.42 ± 2.07 years (P < 0.0001). Seventy percent of the patients were smokers. The most common clinical manifestation of PSP was chest pain (80%) in contrast to dyspnea in SSP (96%). The most common cause of SSP (42%) was found to be chronic obstructive pulmonary disease (COPD) followed by pulmonary tuberculosis (30%). The cases were managed with intercostal tube drainage (85%), simple aspiration (8.33%), and observation (6.67%). Full expansion of the lung was noted in 91.67% of the cases. Conclusion: Spontaneous pneumothorax was more common in men. SSP was far more common in this study, and the predominant underlying cause of SSP was COPD, which surpassed tuberculosis as the leading cause of SSP. This is in contrast to the results from previous studies done in our country. Intercostal tube drainage was the mainstay of treatment and the response was good. [ABSTRACT FROM AUTHOR]