The discovery of a Persian family with a form of Birt–Hogg–Dubé syndrome lacking the typical cutaneous stigmata of the syndrome

PurposeThis study was performed in 24 members of a family with spontaneous pneumothorax to test clinical suspicion of Birt–Hogg–Dubé syndrome (BHDS).MethodsComputed tomography scan was performed for confirmation of pneumothorax, while genetic tests were done using real-time quantitative polymerase chain reaction.ResultsGenetic studies showed a deletion of exon 1 in the FLCN gene in the index case as well as nine other individuals, including two with clinical phenotypes of pneumothorax and seven who are symptom-free to date.ConclusionsProper imaging and taking accurate family history could be the keys to test clinical suspicion in some syndromes, including BHDS.