Pulmonary features of Birt-Hogg-Dubé syndrome: Cystic lesions and pulmonary histiocytoma

Respiratory Medicine

Volumn 105, Issue 5, 2011, Pages 768-774

  Tomassetti, S ^a   Carloni, A ^b   Chilosi, M ^c   Maff, A ^d   Ungari, S ^d   Sverzellati, N ^e   Gurioli, C ^a   Casoni, G ^a   Romagnoli, M ^a   Ravaglia, C ^a   Poletti, V ^a  

^a GB Morgagni Hospital   (Italy)

^b S MARIA HOSPITAL   (Italy)

^c UNIVERSITY HOSPITAL OF VERONA   (Italy)

^d S CROCE E CARLE HOSPITAL   (Italy)

^e UNIVERSITY HOSPITAL OF PARMA   (Italy)

Author keywords

Genetic skin diseases; Histiocytoma; Kidney neoplasms; Lung diseases; Pneumothorax

Indexed keywords

CATHEPSIN K; CD16 ANTIGEN; CD68 ANTIGEN; CYTOKERATIN 18; CYTOKERATIN 19; CYTOKERATIN 8; DENDRITIC CELL LYSOSOME ASSOCIATED MEMBRANE PROTEIN; GENOMIC DNA; PROTEIN S 100; T6 ANTIGEN; THYROID TRANSCRIPTION FACTOR 1;

ADULT; ANGIOMYOLIPOMA; ARTICLE; BIRT HOGG DUBE SYNDROME; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; COUGHING; DISEASE ASSOCIATION; DYSPNEA; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; HISTIOCYTOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOPHENOTYPING; ITALY; KIDNEY TUMOR; LUNG BIOPSY; LUNG CYST; LUNG FUNCTION TEST; LUNG HISTIOCYTOMA; LUNG LESION; LUNG NODULE; LYMPHANGIOLEIOMYOMATOSIS; MALE; MEDICAL HISTORY; MEDICAL RECORD REVIEW; NUCLEOTIDE SEQUENCE; PLEURODESIS; PNEUMOTHORAX; PRIORITY JOURNAL; RECURRENT DISEASE; SKIN DEFECT; SMOKING;

ADULT; BIRT-HOGG-DUBE SYNDROME; CYSTS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HISTIOCYTOMA; HUMANS; ITALY; LUNG DISEASES; LUNG NEOPLASMS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PNEUMOTHORAX; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 79953023515     PISSN: 09546111     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rmed.2011.01.002     Document Type: Article

References (15)

1. M.L. Nickerson, M.B. Warren, and J.R. Toro 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-Dubé syndrome Cancer Cell 2 2002 157 164 (Pubitemid 41039116)
2. A.R. Birt, G.R. Hogg, and W.J. Dubé Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons Arch Dermatol 113 1977 1674 1677 (Pubitemid 8241734)
3. J.R. Toro, S.E. Pautler, L. Stewart, G.M. Glenn, M. Weinreich, O. Toure, M.H. Wei, L.S. Schmidt, L. Davis, B. Zbar, P. Choyke, S.M. Steinberg, D.M. Nguyen, and W.M. Linehan 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)
4. D.S. Ayo, G.L. Aughenbaugh, E.S. Yi, J.L. Hand, and J.H. Ryu Cystic lung disease in Birt-Hogg-Dube syndrome Chest 132 2007 679 684 (Pubitemid 47282405)
5. T.R. Hartman, E. Nicolas, A. Klein-Szanto, T. Al-Saleem, T.P. Cash, M.C. Simon, and E.P. Henske The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis Oncogene 28 13 2009 Apr 2 1594 1604
6. Y. Hasumi, M. Baba, R. Ajima, H. Hasumi, V.A. Valera, M.E. Klein, D.C. Haines, M.J. Merino, S.B. Hong, T.P. Yamaguchi, and L.S. Schmidt Linehan WM.Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2 Proc Natl Acad Sci U S A 106 44 2009 Nov 3 18722 18727
7. J.Y. Chung, F.A. Ramos-Caro, and B. Beers Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome Int J Dermatol 35 1996 365 367
8. A. Vincent, M. Farley, and E. Chan Birt-Hogg-Dubé syndrome: two patients with neural tissue tumors J Am Acad Dermatol 49 2003 717 719 (Pubitemid 37210291)
9. A. Maffé, B. Toschi, G. Circo, D. Giachino, S. Giglio, A. Rizzo, A. Carloni, V. Poletti, S. Tomassetti, C. Ginardi, S. Ungari, and M. Genuardi Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations Clin Genet 2010 Jun 7 [Epub ahead of print]
10. N. Misago, and Y. Narisawa Fibrofolliculoma in a patient with tuberous sclerosis complex Clin Exp Dermatol 34 8 2009 892 894
11. F.H. Menko, M.A. van Steensel, and S. Giraud European BHD consortium. Birt-Hogg-Dubé syndrome: diagnosis and management Lancet Oncol 10 2009 1199 1206
12. M.G. Joseph, T.V. Colby, S.J. Swensen, J.P. Mikus, and E.A. Gaensler Multiple cystic fibrohistiocytic tumors of the lung: report of two cases Mayo Clin Proc 65 1990 192 197 (Pubitemid 20089387)
13. M. Chilosi, M. Pea, G. Martignoni, M. Brunelli, S. Gobbo, V. Poletti, and F. Bonetti Cathepsin-k expression in pulmonary lymphangioleiomyomatosis Mod Pathol 22 2009 161 166
14. J.R. Toro, M.H. Wei, G.M. Glenn, M. Weinreich, O. Toure, C. Vocke, M. Turner, P. Choyke, M.J. Merino, P.A. Pinto, S.M. Steinberg, L.S. Schmidt, and W.M. Linehan 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 6 2008 Jun 321 331 (Pubitemid 351839472)
15. L.S. Schmidt, M.L. Nickerson, M.B. Warren, G.M. Glenn, J.R. Toro, M.J. Merino, M.L. Turner, P.L. Choyke, N. Sharma, and J. Peterson Germline BHD mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube' syndrome Am J Genet 76 2005 1023 1033 (Pubitemid 40705436)