Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome;Pneumothorax itératifs et spontanés révélant un syndrome de Birt-Hogg-Dubé

Revue des Maladies Respiratoires

Volumn 28, Issue 3, 2011, Pages 355-359

  Van Denhove, A ^a   Guillot Pouget, I ^a   Giraud, S ^a   Isaac, S ^a   Freymond, N ^a   Calender, A ^a   Pacheco, Y ^a   Devouassoux, G ^a  

^a UNIVERSITÉ LYON 1   (France)

Author keywords

Birt Hogg Dub syndrome; Cutaneous fibrofolliculoma; Folliculin; Kidney tumour; Lung pneumatocyst; Pneumothorax

Indexed keywords

BIRT HOGG DUBE PROTEIN; TUMOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BIRT HOGG DUBE SYNDROME; CASE REPORT; FAMILY HISTORY; GENE MUTATION; HUMAN; LUNG CYST; SPONTANEOUS PNEUMOTHORAX;

BIRT-HOGG-DUBE SYNDROME; CYSTS; DIAGNOSIS, DIFFERENTIAL; DRAINAGE; EXONS; FEMALE; GERM-LINE MUTATION; HUMANS; KIDNEY NEOPLASMS; LUNG DISEASES; MIDDLE AGED; PEDIGREE; PNEUMOTHORAX; PROGNOSIS; PROTO-ONCOGENE PROTEINS; RARE DISEASES; TUMOR SUPPRESSOR PROTEINS;

EID: 79959496721     PISSN: 07618425     EISSN: 17762588     Source Type: Journal    
DOI: 10.1016/j.rmr.2010.08.015     Document Type: Article

References (18)

1. A.R. Birt G.R. Hogg W.J. Dubé Hereditary multiple fibrofolliculomeas with trichodiscomas and acrochordons Arch Dermatol 113 1977 1674 1677 (Pubitemid 8241734)
2. J. Toro G. Glenn P. Duray T. Darling G. Weirich B. Zbar, et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia Arch Dermatol 135 1999 1195 1202 (Pubitemid 29493279)
3. L.S. Schmidt M.L. Nickerson M.B. Warren G.M. Glenn J.R. Toro M.J. Merino, et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome Am J Hum Genet 76 2005 1023 1033 (Pubitemid 40705436)
4. J.R. Toro M.H. Wei G.M. Glenn M. Weinrich O. Toure M. Turner, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg- Dubé syndrome: a new series of 50 families ands a review of published reports J Med Genet 45 2008 321 331 (Pubitemid 351839472)
5. M. Baba S.B. Hong N. Sharma M.B. Warren M.L. Nickerson A. Iwamatsu, et al. Folliculin encoded by the BMD 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 2006 15552 15557 (Pubitemid 44625630)
6. T. Le Guyadec J.P. Dufau J.F. Poulain F. Vaylet M. Grossin G. Lanternier Multiple trichodiscomas associated with colonic polyposis Ann Dermatol Venerol 125 1998 717 719 (Pubitemid 28493731)
7. V. Liu T. Kwan E.H. Page Parotid oncocytoma in the Birt-Hogg-Dubé syndrome J Am Acad Dermatol 43 2000 1120 1122
8. S. Sundaram A.D. Tasker N.W. Morell Familial spontaneous pneumothorax and lung cysts due to folliculin exon 10 mutation Eur Respir J 33 2009 1510 1512
9. C. Vocke Y. Yang C.P. Pavlovich L.S. Schmidt M.L. Nickerson C.A. Torres-Cabala, et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors J Natl Cancer Inst 25 2005 5933 5941
10. L.C. Cantley B.G. Neel New insights into tumor suppression: PTEN suppresses tumor formation by restraining the phosphoinositide 3-kinase/AKT pathway Proc Natl Acad Sci U S A 96 1999 4240 4245 (Pubitemid 29190320)
11. C.J. Potter L.G. Pedraza T. Xu Akt regulates growth by directly phosphorylating Tsc2 Nat Cell Biol 4 2002 658 665 (Pubitemid 34993701)
12. T.R. Hartman E. Nicolas A. Klein-Szanto T. Al-Saleem T.P. Cash M.C. Simon, et al. The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis Oncogene 28 2009 1594 1604
13. C.P. Pavlovich M.M. Walther R.A. Eyler S.M. Hewitt B. Zbar W.M. Linehan, et al. Renal tumor in the Birt-Hogg-Dubé syndrome Am J Surg Pathol 26 2002 1542 1552
14. J.R. Toro S.E. Pautler L. Stewart G.M. Glenn M. Weinrich O. Toure, et al. Lung cysts, spontaneous pneumothorax and genetic associations in 89 families with Birt-Hogg-Dubé syndrome Am J Respir Crit Care Med 175 2007 1044 1053 (Pubitemid 46741756)
15. D.S. Ayo G.L. Aughenbaugh E.S. Yi J.L. Hand J.H. Ryu Cystic lung diseases in Birt-Hogg-Dubé syndrome Chest 132 2007 679 684 (Pubitemid 47282405)
16. Tobino K, Gunji Y, Kurihara M, Kunogi M, Koike K, Tomiyama N, et al. Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol 2009; doi:10.1016/j.ejrad.2009.09.004 (sous presse).
17. B.A. Fröhlich C. Zeitz G. Matyas H. Alkadhi C. Tuor W. Berger, et al. Novel mutations in the folliculin gene associated with spontaneous pneumothorax Eur Respir J 32 2008 1316 1320
18. M.H. Cho B.J. Klanderman A.A. Litonjua D. Sparrow E.K. Silverman B.A. Raby Folliculin mutations are not associated with severe COPD BMC Med Genet 9 2008 120 130