Cystic Lung Disease in Birt-Hogg-Dubé syndrome: A case series of three patients

Amaç & Hipotez:Birt-Hogg-Dubé sendromu, klinik olarak deri hamartomları, renal tümörler ve spontan pnömotoraksla birlikte olan akciğer kistleri ile karakterizedir.

📊

Temel Bulgular & Veri:Toraks BT incelemesinde tüm hastalarda farklı boyutlarda çok sayıdaakciğer kisti vardı.

💡

Sonuç & Katkı:Biz burada Birt-Hogg-Dubé sendromlu üç hastada toraks bilgisayarlı tomografi (BT) bulgularını sunduk.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

Özet

Birt-Hogg-Dubé sendromu, klinik olarak deri hamartomları, renal tümörler ve spontan pnömotoraksla birlikte olan akciğer kistleri ile karakterizedir. Birt-Hogg-Dubé sendromu tanısı alan hastalarda sadecemultipl akciğer kistleri olabilir. Biz burada Birt-Hogg-Dubé sendromlu üç hastada toraks bilgisayarlı tomografi (BT) bulgularını sunduk. Toraks BT incelemesinde tüm hastalarda farklı boyutlarda çok sayıdaakciğer kisti vardı. Kistlerin çoğu alt loblarda ve plevra ile ilişkiliydi.Toraks BT bulguları, bu sendromun rastlantısal tanısı için önemli bir yol gösterici olabilir.

Abstract

Birt-Hogg-Dubé syndrome is characterized by clinical manifestationssuch as hamartomas of the skin, renal tumors and lung cysts withspontaneous pneumothoraces. Patients with Birt-Hogg-Dubé syndrome may present with only multiple lung cysts. We report the chest computerized tomography (CT) features of three patients with Birt- Hogg-Dubé syndrome. Each patient had multiple lung cysts of various sizes according to chest CT evaluation, most of which were located in lower lobes and related to pleura. The identification of unique characteristics in the chest CT of patients with Birt-Hogg-Dubé syndromemay provide an efficient mechanism for diagnosis.

🔖

Bu Makaleye Atıf Yap

KİLİNCER, A., ARİYUREK, O. M., KARABULUT, N. (2022). Cystic Lung Disease in Birt-Hogg-Dubé syndrome: A case series of three patients. Eurasian Journal of Medicine, Cilt: 46 - Sayı: 2, 138–141. https://ajindex.com/articles/509130

📄 Tam Metin PDF Okuyucu

Yeni Sekmede Aç ↗

↗Yeni Sekme

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (1)

Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977; 113: 1674-7. [CrossRef] 2. Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHD- mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet 2005; 76: 1023-33. [CrossRef] 3. Toro JR, Wei MH, Glenn GM, et al. BHD mutations, clinial and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. J Med Genet 2008; 45: 321-31. [CrossRef] 4. Gunji Y, Akiyoshi T, Sato T, et al. Mutations of the Birt–Hogg– Dubé gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet 2007; 44: 588-93. [CrossRef] 5. Toro JR, Pautler SE, Stewart L, et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med 2007; 175: 1044-53. [CrossRef] 6. Tobino K, Gunji Y, Kurihara M, et al. Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: Thin-section CT findings of the chest in 12 patients. Eur J Radiol 2011; 77: 403-9. [CrossRef] 7. Agarwal PP, Gross BH, Holloway BJ, et al. Thoracic CT Findings in Birt-Hogg-Dube Syndrome. AJR Am J Roentgenol 2011; 196: 349-52. [CrossRef] 8. Kluger N, Giraud S, Coupier I, et al. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. Br J Dermatol 2010; 162: 527-37. [CrossRef] 9. Ryu JH, Swensen SJ. Cystic and cavitary lung diseases: Focal and diffuse. Mayo Clin Proc 2003; 78: 744-52.[CrossRef] 10. Koyama M, Johkoh T, Honda O, et al. Chronic cystic lung disease: diagnostic accuracy of high-resolution CT in 92 patients. AJR Am J Roentgenol 2003; 180: 827-35. [CrossRef] 11. Ayo DS, Aughenbaugh GL, Yi ES, et al. Cystic lung disease in Birt- Hogg-Dubé syndrome. Chest 2007; 132: 679-84. [CrossRef] 12. Abbott GF, Rosado-de-Christenson ML, Franks TJ, et al. From the archives of the AFIP: pulmonary Langerhans cell histiocytosis. Radiographics. 2004; 24: 821-41. [CrossRef] 13. Johkoh T, Müller NL, Pickford HA, et al. Lymphocytic interstitial pneumonia: thin-section CT findings in 22 patients. Radiology 1999; 212: 567-72. [CrossRef]