Birt-hogg-dubé syndrome with multiple cysts and recurrent pneumothorax: Pathological findings

Internal Medicine

Volumn 49, Issue 19, 2010, Pages 2137-2142

  Hayashi, Makoto ^a   Takayanagi, Noboru ^a   Ishiguro, Takashi ^a   Sugita, Yutaka ^a   Kawabata, Yoshinori ^b   Fukuda, Yuh ^c  

^a Saitama Cardiovascular and Respiratory Center ^*  (Japan)

^b Division of Pathology   (Japan)

^c NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

Birt Hogg Dub ; Multiple lung cysts; Pathology; Pneumothorax; Syndrome

Indexed keywords

BIRT HOGG DUBE PROTEIN; GENE PRODUCT; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BIRT HOGG DUBE SYNDROME; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; COUGHING; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HOSPITAL ADMISSION; HUMAN; LUNG CYST; LUNG RESECTION; MACROPHAGE; PLEURODESIS; PNEUMOTHORAX; RECURRENT DISEASE; THORAX PAIN; THORAX RADIOGRAPHY; VIDEO ASSISTED THORACOSCOPIC SURGERY;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BIRT-HOGG-DUBE SYNDROME; CYSTS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LUNG DISEASES; PNEUMOTHORAX; PROTO-ONCOGENE PROTEINS; RECURRENCE; SEQUENCE DELETION; TUMOR SUPPRESSOR PROTEINS;

EID: 77958104850     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.49.3670     Document Type: Article

References (17)

1. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 113: 1674-1677, 1977.
2. Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHDmutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet 76: 1023-1033, 2005.
3. Ayo DS, Aughenbaugh GL, Yi ES, Handl JL, Ryu JH. Cystic lung disease in Birt-Hogg-Dube syndrome. Chest 132: 679-684, 2007.
4. Schmidt LS, Warren MB, Nickerson ML, et al. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 69: 876-882, 2001.
5. 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 45: 321-331, 2008.
6. Baba M, Hong SB, Sharma N, et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci U S A 103: 15552-15557, 2006.
7. Warren MB, Torres-Cabala CA, Turner ML, et al. Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. Mod Pathol 17: 998-1011, 2004.
8. Hartman TR, Nicolas E, Klein-Szanto A, et al. The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene 28: 1594-1604, 2009.
9. Kunogi M, Tobino K, Gunji Y, Kumasaka T, Kurihara M, Seyama K. Mutation analysis of the Birt-Hogg-Dubé gene in patients with multiple lung cysts. Kokyuki-ka 15: 434-441, 2009 (in Japanese).
10. Abolnik IZ, Lossos IS, Zlotogora J, Brauer R. On the inheritance of primary spontaneous pneumothorax. Am J Med Genet 40: 155-158, 1991.
11. Fukuda Y, Ishizaki M, Masugi Y. Distribution of elastin and alpha-1 antitrypsin in emphysematous lungs. Connective Tissue 21: 27-28, 1990.
12. Fukuda Y, Kawamoto M, Yamamoto A, Ishizaki M, Basset F, Masugi Y. Role of elastic fiber degradation in emphysema-like lesions of pulmonary lymphangiomyomatosis. Hum Pathol 21: 1252-1261, 1990.
13. Graham RB, Nolasco M, Peterlin B, Garcia CK. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med 172: 39-44, 2005.
14. Massaro GD, Massaro D. Postnatal lung growth: evidence that the gas-exchange region grows fastest at the periphery. Am J Physiol 265: L319-L322, 1993.
15. Koga S, Furuya M, Takahashi Y, et al. Lung cysts in Birt-Hogg- Dubé syndrome: histopathological characteristics and aberrant sequence repeats. Pathol Int 59: 720-728, 2009.
16. Zbar B, Alvord WG, Glenn G, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev 11: 393-400, 2002.
17. Toro JR, Pautler SE, Stewart L, et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt- Hogg-Dube syndrome. Am J Respir Crit Care Med 175: 1044-1053, 2007.