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Dergiler / Turkish Thoracic Journal / 2018 / Cilt: 19 - Sayı: 3

A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome

Engin KARAMAN
FURKAN UFUK
Mahmut DEMİRCİ
Hüseyin Gökhan YAVAŞ
Sayfa
150–152
DOI
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Herein, we report a caseof BHD syndrome presenting with recurrent pneumothorax.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Birt-Hogg-Dube (BHD) syndrome is an unusual disorder characterized by the triad of cutaneous lesions, renal tumors and lung cysts.
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Temel Bulgular & Veri:Incases with BHD syndrome, the frequency of recurrent pneumothorax is increased due to presence of multiple lung cysts.
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Sonuç & Katkı:Herein, we report a caseof BHD syndrome presenting with recurrent pneumothorax.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Birt-Hogg-Dube (BHD) syndrome is an unusual disorder characterized by the triad of cutaneous lesions, renal tumors and lung cysts. Incases with BHD syndrome, the frequency of recurrent pneumothorax is increased due to presence of multiple lung cysts. It is importantto evaluate the BHD syndrome in differential diagnosis of recurrent pneumothorax especially with multiple lung cysts predominating inthe lung base. In these patients, the presence of accompanying kidney and other tumors should be investigated. Herein, we report a caseof BHD syndrome presenting with recurrent pneumothorax.

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Bu Makaleye Atıf Yap

KARAMAN, E., UFUK, F., DEMİRCİ, M., YAVAŞ, H. G. (2018). A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome. Turkish Thoracic Journal, Cilt: 19 - Sayı: 3, 150–152. https://ajindex.com/articles/418030

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Kaynakça (3)

  1. Burkett A, Coffey N, Tomiak E, et al. Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome. Respir Med Case Rep 2016;19:106-8
  2. Noppen M, De Keukeleire T. Pneumothorax. Respiration 2008;76:121-7. [CrossRef] 3. Toro JR, Wei MH, Glenn GM, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet 2008;45:321-31. [CrossRef] 4. Kunogi M, Akiyoshi T, Gunji Y, et al. Mutation analysis of the Birt-Hogg-Dubé gene in patients with multiple lung cysts. Am J Respir Crit Care Med 2009;179:A4398
  3. Maffe A, Toschi B, Circo G, et al. Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations. Clin Genet 2011;79:345-54. [CrossRef] 6. Chung JY, Ramos-Caro FA, Beers B, et al. Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. Int J Dermatol 1996;35:365-7. [CrossRef] 7. Gupta N, Sunwoo BY, Kotloff RM. Birt-Hogg-Dubé Syndrome. Clin Chest Med 2016;37:475-86.[CrossRef]