J Korean Soc Radiol.  2011 Jan;64(1):39-43. 10.3348/jksr.2011.64.1.39.

Spontaneous Pneumothorax in Birt-Hogg-Dube Syndrome: Two Case Reports

• Bae HJ
• Woo OH
• Yong HS
• Kang EY
• Kim HK
• Choi YH
• Shin BK
• Kim YK

• KMID: 1443580
• DOI: http://doi.org/10.3348/jksr.2011.64.1.39

Abstract

Birt-Hogg-Dube(BHD) syndrome is a rare autosomal dominant inherited disorder that is characterized by skin fibrofolliculomas, renal tumors and multiple lung cysts with or without spontaneous pneumothorax. The disease is caused by germline mutations in the FLCN gene that codes for a protein of unknown function called folliculin. Patients with BHD syndrome do not always have all three manifestations of the skin, kidney and lung. To the best of our knowledge, there has been no case report of the radiologic findings of the lung manifestation in a patient with BHD syndrome in Korea. We report here on two cases of BHD syndrome that presented with spontaneous pneumothorax. The pulmonary abnormalities consisted of multiple thin-walled cysts of various sizes and shapes in both lungs.

MeSH Terms

Estrone
Germ-Line Mutation
Humans
Kidney
Korea
Lung
Pneumothorax
Skin
Estrone

Figure

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  Fig. 1 Chest radiograph (A) of patient 1 shows a large pneumothorax in the right lung with passive atelectasis of the right lung. The chest CT images (B and C) after closed thoracostomy show multiple cysts of various sizes and shapes in both lungs. The pathologic diagnoses of the pulmonary cysts were bulla and blebs (D). The chest CT images of her daughter also showed multiple thin-walled cysts in both lungs (E and F). The pathologic diagnosis of the pulmonary cysts was bulla only (G).

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  Fig. 2 The axial (A and B) and coronal (C) CT images of patient 2 show multiple, thin-walled cysts in both lungs, which are abutting or including the pulmonary vessels. The pathologic diagnosis of her multiple skin papules was consistent with fibrofolliculoma (D).

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