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Case Reports
. 2013 Jan-Feb;37(1):111-5.
doi: 10.1016/j.clinimag.2012.03.003. Epub 2012 Jun 8.

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

Ali Babaei Jandaghi  1 , Saeid Daliri, Mika Kikkawa, Mojdeh Khaledi, Narjes Soleimanifar, Ahmad Alizadeh, Mahmoud Habibzadeh, Mohammad Taghi Haghi-Ashtiani, Kuniaki Seyama, Nima Rezaei
Affiliations
Case Reports

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

Ali Babaei Jandaghi et al. Clin Imaging. 2013 Jan-Feb.

Abstract

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.

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