메뉴 건너뛰기




Volumn 109, Issue 3, 2015, Pages 289-296

Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement

Author keywords

Birt Hogg Dub ; Computed tomography; Imaging; Lung diseases

Indexed keywords

ESTRONE; BIOLOGICAL MARKER; FLCN PROTEIN, HUMAN; ONCOPROTEIN; TUMOR SUPPRESSOR PROTEIN;

EID: 84933180124     PISSN: 09546111     EISSN: 15323064     Source Type: Journal    
DOI: 10.1016/j.rmed.2014.11.008     Document Type: Review
Times cited : (49)

References (45)
  • 1
    • 79953023515 scopus 로고    scopus 로고
    • Pulmonary features of Birt-Hogg-Dubé syndrome: Cystic lesions and pulmonary histiocytoma
    • Tomassetti S, Carloni A, Chilosi M, Maffè A, Ungari S, Sverzellati N, et al. Pulmonary features of Birt-Hogg-Dubé syndrome: cystic lesions and pulmonary histiocytoma. Respir Med 2011;105(5):768-74.
    • (2011) Respir Med , vol.105 , Issue.5 , pp. 768-774
    • Tomassetti, S.1    Carloni, A.2    Chilosi, M.3    Maffè, A.4    Ungari, S.5    Sverzellati, N.6
  • 2
    • 84885950233 scopus 로고    scopus 로고
    • Pulmonary manifestations of Birt-Hogg-Dubé syndrome
    • Gupta N, Seyama K, McCormack FX. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Fam Cancer 2013;12(3):387-96.
    • (2013) Fam Cancer , vol.12 , Issue.3 , pp. 387-396
    • Gupta, N.1    Seyama, K.2    McCormack, F.X.3
  • 3
    • 0017760671 scopus 로고
    • Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons
    • Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977;113(12):1674-7.
    • (1977) Arch Dermatol , vol.113 , Issue.12 , pp. 1674-1677
    • Birt, A.R.1    Hogg, G.R.2    Dubé, W.J.3
  • 4
    • 0016770524 scopus 로고
    • Perifollicular fibromatosis cutis with polyps of the colon - A cutaneo-intestinal syndrome sui generis
    • Hornstein OP, Knickenberg M. Perifollicular fibromatosis cutis with polyps of the colon - a cutaneo-intestinal syndrome sui generis. Arch Dermatol Res 1975;253(2):161-75.
    • (1975) Arch Dermatol Res , vol.253 , Issue.2 , pp. 161-175
    • Hornstein, O.P.1    Knickenberg, M.2
  • 5
    • 84863106297 scopus 로고    scopus 로고
    • Birt-Hogg-Dubé syndrome: Report of a new mutation
    • Rehman HU. Birt-Hogg-Dubé syndrome: report of a new mutation. Can Respir J 2012;19(3):193-5.
    • (2012) Can Respir J , vol.19 , Issue.3 , pp. 193-195
    • Rehman, H.U.1
  • 6
    • 34248350779 scopus 로고    scopus 로고
    • Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome
    • 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-Dubé syndrome. Am J Respir Crit Care Med 2007;175(10):1044-53.
    • (2007) Am J Respir Crit Care Med , vol.175 , Issue.10 , pp. 1044-1053
    • Toro, J.R.1    Pautler, S.E.2    Stewart, L.3    Glenn, G.M.4    Weinreich, M.5    Toure, O.6
  • 7
    • 45249103326 scopus 로고    scopus 로고
    • BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: A new series of 50 families and a review of published reports
    • Jun
    • Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, 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 2008 Jun;45(6):321-31.
    • (2008) J Med Genet , vol.45 , Issue.6 , pp. 321-331
    • Toro, J.R.1    Wei, M.H.2    Glenn, G.M.3    Weinreich, M.4    Toure, O.5    Vocke, C.6
  • 9
    • 84899642843 scopus 로고    scopus 로고
    • Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK
    • Goncharova EA, Goncharov DA, James ML, Atochina-Vasserman EN, Stepanova V, Hong SB, et al. Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK. Cell Rep 2014;7(2):412-23.
    • (2014) Cell Rep , vol.7 , Issue.2 , pp. 412-423
    • Goncharova, E.A.1    Goncharov, D.A.2    James, M.L.3    Atochina-Vasserman, E.N.4    Stepanova, V.5    Hong, S.B.6
  • 10
    • 0032718182 scopus 로고    scopus 로고
    • Birt-Hogg-Dubé syndrome: A novel marker of kidney neoplasia
    • Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zbar B, et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol 1999;135(10):1195-202.
    • (1999) Arch Dermatol , vol.135 , Issue.10 , pp. 1195-1202
    • Toro, J.R.1    Glenn, G.2    Duray, P.3    Darling, T.4    Weirich, G.5    Zbar, B.6
  • 11
    • 33747329830 scopus 로고    scopus 로고
    • Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax
    • Pittet O, Christodoulou M, Staneczek O, Ris HB. Diagnosis of Birt-Hogg-Dube syndrome in a patient with spontaneous pneumothorax. Ann Thorac Surg 2006;82(3):1123-5.
    • (2006) Ann Thorac Surg , vol.82 , Issue.3 , pp. 1123-1125
    • Pittet, O.1    Christodoulou, M.2    Staneczek, O.3    Ris, H.B.4
  • 14
    • 78650118680 scopus 로고    scopus 로고
    • Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with upregulation of mitochondrial gene expression
    • Dec 16
    • Klomp JA, Petillo D, Niemi NM, Dykema KJ, Chen J, Yang XJ, et al. Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with upregulation of mitochondrial gene expression. BMC Med Genomics 2010 Dec 16;3:59.
    • (2010) BMC Med Genomics , vol.3 , pp. 59
    • Klomp, J.A.1    Petillo, D.2    Niemi, N.M.3    Dykema, K.J.4    Chen, J.5    Yang, X.J.6
  • 15
    • 84873094749 scopus 로고    scopus 로고
    • Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome
    • Nishii T, Tanabe M, Tanaka R, Matsuzawa T, Okudela K, Nozawa A, et al. Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome. Pathol Int 2013;63(1):45-55.
    • (2013) Pathol Int , vol.63 , Issue.1 , pp. 45-55
    • Nishii, T.1    Tanabe, M.2    Tanaka, R.3    Matsuzawa, T.4    Okudela, K.5    Nozawa, A.6
  • 17
    • 84874650899 scopus 로고    scopus 로고
    • Birt-Hogg-Dube syndrome: Clinico-pathological features of the lung
    • Furuya M, Nakatani Y. Birt-Hogg-Dube syndrome: clinico-pathological features of the lung. J Clin Pathol 2013;66(3):178-86.
    • (2013) J Clin Pathol , vol.66 , Issue.3 , pp. 178-186
    • Furuya, M.1    Nakatani, Y.2
  • 20
    • 77951520377 scopus 로고    scopus 로고
    • Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature
    • Kunogi M, Kurihara M, Ikegami TS, Kobayashi T, Shindo N, Kumasaka T, et al. Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet 2010;47(4):281-7.
    • (2010) J Med Genet , vol.47 , Issue.4 , pp. 281-287
    • Kunogi, M.1    Kurihara, M.2    Ikegami, T.S.3    Kobayashi, T.4    Shindo, N.5    Kumasaka, T.6
  • 21
    • 70349515966 scopus 로고    scopus 로고
    • Lung cysts in Birt-Hogg-Dubé syndrome: Histopathological characteristics and aberrant sequence repeats
    • Koga S, Furuya M, Takahashi Y, Tanaka R, Yamaguchi A, Yasufuku K, et al. Lung cysts in Birt-Hogg-Dubé syndrome: histopathological characteristics and aberrant sequence repeats. Pathol Int 2009;59(10):720-8.
    • (2009) Pathol Int , vol.59 , Issue.10 , pp. 720-728
    • Koga, S.1    Furuya, M.2    Takahashi, Y.3    Tanaka, R.4    Yamaguchi, A.5    Yasufuku, K.6
  • 22
    • 33750293584 scopus 로고    scopus 로고
    • Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
    • Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, 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 2006;103(42):15552-7.
    • (2006) Proc Natl Acad Sci u S a , vol.103 , Issue.42 , pp. 15552-15557
    • Baba, M.1    Hong, S.B.2    Sharma, N.3    Warren, M.B.4    Nickerson, M.L.5    Iwamatsu, A.6
  • 23
    • 84859066969 scopus 로고    scopus 로고
    • Pulmonary cysts of Birt-Hogg-Dubé syndrome: A clinicopathologic and immunohistochemical study of 9 families
    • Furuya M, Tanaka R, Koga S, Yatabe Y, Gotoda H, Takagi S, et al. Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families. Am J Surg Pathol 2012;36(4):589-600.
    • (2012) Am J Surg Pathol , vol.36 , Issue.4 , pp. 589-600
    • Furuya, M.1    Tanaka, R.2    Koga, S.3    Yatabe, Y.4    Gotoda, H.5    Takagi, S.6
  • 24
    • 84861022294 scopus 로고    scopus 로고
    • Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: Further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex
    • Byrne M, Mallipeddi R, Pichert G, Whittaker S. Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex. Australas J Dermatol 2012;53(2):151-4.
    • (2012) Australas J Dermatol , vol.53 , Issue.2 , pp. 151-154
    • Byrne, M.1    Mallipeddi, R.2    Pichert, G.3    Whittaker, S.4
  • 26
    • 33845413247 scopus 로고    scopus 로고
    • Birt-Hogg-Dubé syndrome: Clinicopathologic findings and genetic alterations
    • Adley BP, Smith ND, Nayar R, Yang XJ. Birt-Hogg-Dubé syndrome: clinicopathologic findings and genetic alterations. Arch Pathol Lab Med 2006;130(12):1865-70.
    • (2006) Arch Pathol Lab Med , vol.130 , Issue.12 , pp. 1865-1870
    • Adley, B.P.1    Smith, N.D.2    Nayar, R.3    Yang, X.J.4
  • 28
    • 77749330779 scopus 로고    scopus 로고
    • Illustrated Brazilian consensus of terms and fundamental patterns in chest CT scans
    • Silva CI, Marchiori E, Souza Jr AS, Müller NL, Comissão de Imagem da Sociedade Brasileira de Pneumologia e Tisiologia. Illustrated Brazilian consensus of terms and fundamental patterns in chest CT scans. J Bras Pneumol 2010;36(1):99-123.
    • (2010) J Bras Pneumol , vol.36 , Issue.1 , pp. 99-123
    • Silva, C.I.1    Marchiori, E.2    Souza, A.S.3    Müller, N.L.4
  • 29
    • 84894064251 scopus 로고    scopus 로고
    • Lung cysts as indicator for Birt-Hogg-Dubé syndrome
    • Johannesma PC, Thunnissen E, Postmus PE. Lung cysts as indicator for Birt-Hogg-Dubé syndrome. Lung 2014;192(1):215-6.
    • (2014) Lung , vol.192 , Issue.1 , pp. 215-216
    • Johannesma, P.C.1    Thunnissen, E.2    Postmus, P.E.3
  • 30
    • 84887070656 scopus 로고    scopus 로고
    • Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome
    • Kunogi Okura M, Yae T, Nagashima O, Hirai S, Kumasaka T, et al. Pneumothorax developing for the first time in a 73-year-old woman diagnosed with Birt-Hogg-Dubé syndrome. Intern Med 2013;52(21):2453-5.
    • (2013) Intern Med , vol.52 , Issue.21 , pp. 2453-2455
    • Kunogi Okura, M.1    Yae, T.2    Nagashima, O.3    Hirai, S.4    Kumasaka, T.5
  • 33
    • 64049090204 scopus 로고    scopus 로고
    • The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis
    • Hartman TR, Nicolas E, Klein-Szanto A, Al-Saleem T, Cash TP, Simon MC, et al. The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene 2009;28(13):1594-604.
    • (2009) Oncogene , vol.28 , Issue.13 , pp. 1594-1604
    • Hartman, T.R.1    Nicolas, E.2    Klein-Szanto, A.3    Al-Saleem, T.4    Cash, T.P.5    Simon, M.C.6
  • 37
    • 84880156051 scopus 로고    scopus 로고
    • Hereditary syndromes with associated renal neoplasia: A practical guide to histologic recognition in renal tumor resection specimens
    • Przybycin CG, Magi-Galluzzi C, McKenney JK. Hereditary syndromes with associated renal neoplasia: a practical guide to histologic recognition in renal tumor resection specimens. Adv Anat Pathol 2013;20(4):245-63.
    • (2013) Adv Anat Pathol , vol.20 , Issue.4 , pp. 245-263
    • Przybycin, C.G.1    Magi-Galluzzi, C.2    McKenney, J.K.3
  • 38
    • 21844473505 scopus 로고    scopus 로고
    • Multiple facial angiofibromas: A cutaneous manifestation of Birt-Hogg-Dubé syndrome
    • Suppl. 1
    • Schaffer JV, Gohara MA, McNiff JM, Aasi SZ, Dvoretzky I. Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 2005;53(2 Suppl. 1):S108-11.
    • (2005) J Am Acad Dermatol , vol.53 , Issue.2 , pp. S108-S111
    • Schaffer, J.V.1    Gohara, M.A.2    McNiff, J.M.3    Aasi, S.Z.4    Dvoretzky, I.5
  • 40
    • 79952991687 scopus 로고    scopus 로고
    • Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: Thin-section CT findings of the chest in 12 patients
    • 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 2011;77(3):403-9.
    • (2011) Eur J Radiol , vol.77 , Issue.3 , pp. 403-409
    • Tobino, K.1    Gunji, Y.2    Kurihara, M.3    Kunogi, M.4    Koike, K.5    Tomiyama, N.6
  • 42
    • 84860754456 scopus 로고    scopus 로고
    • Differentiation between Birt-Hogg-Dubé syndrome and lymphangioleiomyomatosis: Quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females
    • Tobino K, Hirai T, Johkoh T, Kurihara M, Fujimoto K, Tomiyama N, et al. Differentiation between Birt-Hogg-Dubé syndrome and lymphangioleiomyomatosis: quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females. Eur J Radiol 2012;81(6):1340-6.
    • (2012) Eur J Radiol , vol.81 , Issue.6 , pp. 1340-1346
    • Tobino, K.1    Hirai, T.2    Johkoh, T.3    Kurihara, M.4    Fujimoto, K.5    Tomiyama, N.6
  • 43
    • 84986204220 scopus 로고    scopus 로고
    • Lymphocytic interstitial pneumonia: Correlation of high-resolution computed tomography findings with anatomopathology
    • Marchiori E, Damato S, Rodrigues R, Valiante PM, Mendonça RG, Miyagui T, et al. Lymphocytic interstitial pneumonia: correlation of high-resolution computed tomography findings with anatomopathology. Radiol Bras 2002;35(4):199-203.
    • (2002) Radiol Bras , vol.35 , Issue.4 , pp. 199-203
    • Marchiori, E.1    Damato, S.2    Rodrigues, R.3    Valiante, P.M.4    Mendonça, R.G.5    Miyagui, T.6
  • 44
    • 77953384879 scopus 로고    scopus 로고
    • Tuberous sclerosis with pulmonary lymphangioleiomyomatosis and renal angiomyolipomas. Computed tomographic findings: A case report
    • Sep 11
    • Vianna FG, Marchiori E, Zanetti G, Mano CM, Sarcinelli-Luz B, Carvalho JF, et al. Tuberous sclerosis with pulmonary lymphangioleiomyomatosis and renal angiomyolipomas. Computed tomographic findings: a case report. Cases J 2009 Sep 11;2:9238.
    • (2009) Cases J , vol.2 , pp. 9238
    • Vianna, F.G.1    Marchiori, E.2    Zanetti, G.3    Mano, C.M.4    Sarcinelli-Luz, B.5    Carvalho, J.F.6
  • 45
    • 0037259897 scopus 로고    scopus 로고
    • British thoracic society guidelines on respiratory aspects of fitness for diving
    • British Thoracic Society Fitness to Dive Group, Subgroup of the British Thoracic Society Standards of Care Committee. British thoracic society guidelines on respiratory aspects of fitness for diving. Thorax 2003;58(1):3-13.
    • (2003) Thorax , vol.58 , Issue.1 , pp. 3-13


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.