Spontaneous Pneumothorax in Birt-Hogg-Dub Syndrome: Two Case Reports |
Bae, Hyoung-Ju
(Department of Radiology, Korea University School of Medicine, Korea University Guro Hospital)
Woo, Ok-Hee (Department of Radiology, Korea University School of Medicine, Korea University Guro Hospital) Yong, Hwan-Seok (Department of Radiology, Korea University School of Medicine, Korea University Guro Hospital) Kang, Eun-Young (Department of Radiology, Korea University School of Medicine, Korea University Guro Hospital) Kim, Hyun-Koo (Department of Thoracic Surgery, Korea University School of Medicine, Korea University Guro Hospital) Choi, Young-Ho (Department of Thoracic Surgery, Korea University School of Medicine, Korea University Guro Hospital) Shin, Bong-Kyung (Department of Pathology, Korea University School of Medicine, Korea University Guro Hospital) Kim, Yoon-Kyung (Department of Radiology, Korea University School of Medicine, Korea University Guro Hospital) |
1 | Birt AR, Hogg GR, Dube WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977;113:1674-1677 DOI ScienceOn |
2 | Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, et al. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 2001;69:876-882 DOI ScienceOn |
3 | Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2002;2:157-164 DOI ScienceOn |
4 | Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, 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;76:1023-1033 DOI ScienceOn |
5 | Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, et al. Birt-Hogg-Dube syndrome: diagnosis and management. Lancet Oncol 2009;10:1199-1206 DOI ScienceOn |
6 | Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev 2002;11:393-400 |
7 | Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome. Am J Respir Crit Care Med 2007;175:1044-1053 DOI ScienceOn |
8 | Butnor KJ, Guinee DG Jr. Pleuropulmonary pathology of Birt- Hogg-Dube syndrome. Am J Surg Pathol 2006;30:395-399 DOI |
9 | Tobino K, Gunji Y, Kurihara M, Kunogi M, Koike K, Tomiyama N, et al. Characteristics of pulmonary cysts in Birt-Hogg-Dube syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol Forthcoming 2009 |
10 | Souza CA, Finley R, Muller NL. Birt-Hogg-Dube syndrome: a rare cause of pulmonary cysts. AJR Am J Roentgenol 2005;185:1237-1239 DOI ScienceOn |