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

PURPOSE: This study was performed in 24 members of a family with spontaneous pneumothorax to test clinical suspicion of Birt-Hogg-Dubé syndrome (BHDS).

METHODS

Computed tomography scan was performed for confirmation of pneumothorax, while genetic tests were done using real-time quantitative polymerase chain reaction.

RESULTS

Genetic 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.

CONCLUSIONS

Proper imaging and taking accurate family history could be the keys to test clinical suspicion in some syndromes, including BHDS.