Respir Case Rep. 2023; 12(1): 7-10 | DOI: 10.5505/respircase.2023.03708

A Rare Cause for Recurrent Pneumothorax: Birt-Hugg-Dubé Syndrome

Merve Þengül Ýnan¹, Özgün Aran², Hakan Iþýk¹, Agbaba Ahmedov¹, Abdullah Sezer³, Alper Gözübüyük^1
1Department of Thoracic Surgery, Gülhane Training And Rese-arch Hospital, Ankara, Türkiye
²Department of Thoracic Surgery, Kýrýkkale Yuksek Ihtisas Hospital, Kýrýkkale, Türkiye
³Department of Medical Genetic, Dr. Sami Ulus Maternity And Child Health And Diseases Training And Research Hospital, Ankara, Türkiye

Birt-Hogg-Dube syndrome (BHDS) is a rare disease with autosomal dominant inheritance. A positive family history, recurrent pneumothorax, skin fibrofolliculomas, pulmonary cysts, and an increased risk of renal malignancy characterize it. The mutation in the folliculin gene is considered to be responsible for the development of this syndrome. This article aims to present a 40-year-old female BHDS patient with a recurrent pneumothorax, skin lesions, and positive family history.

Keywords: pneumothorax, recurrent pneumothorax, folliculin gene

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Nadir Bir Rekürren Pnömotoraks Sebebi: Birt-Hugg-Dubé Sendromu

Merve Þengül Ýnan¹, Özgün Aran², Hakan Iþýk¹, Agbaba Ahmedov¹, Abdullah Sezer³, Alper Gözübüyük^1
1Gülhane Eðitim ve Araþtýrma Hastanesi, Göðüs Cerrahisi Kliniði, Ankara
²Kýrýkkale Yüksek Ýhtisas Hastanesi, Kýrýkkale
³Dr. Sami Ulus Kadýn, Doðum Ve Çocuk Hastalýklarý Hastanesi, Týbbi Genetik Anabilim Dalý, Ankara

Birt-Hogg-Dube sendromu (BHDS), otozomal dominant kalýtým gösteren çok nadir bir hastalýktýr. Pozitif aile öyküsü, tekrarlayan pnömotoraks, deri fibrofollikülomlarý, pulmoner kistler ve renal malignite riskinde artýþ ile karakterizedir. Folikülin genindeki mutasyonun bu sendromun geliþiminden sorumlu olduðu düþünülmektedir. Bu yazýda tekrarlayan pnömotoraks, cilt lezyonlarý ve pozitif aile öyküsü ile baþvuran 40 yaþýnda BHDS kadýn hastayý sunmayý amaçladýk.

Anahtar Kelimeler: pnömotoraks, tekrarlayan pnömotoraks, folikülin geni

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