Actualización en el síndrome Birt-Hogg-Dubé

Actas Dermo-Sifiliográficas - Tập 103 - Trang 198-206 - 2012
V. López1, E. Jordá1, C. Monteagudo2
1Fundación de Investigación Clínico de Valencia-INCLIVA, Hospital Clínico Universitario, Universidad de Valencia, España
2Servicio de Dermatología y Departamento de Anatomía Patológica, Hospital Clínico Universitario, Universidad de Valencia, España

Tài liệu tham khảo

Birt, 1977, Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons, Arch Dermatol, 113, 1674, 10.1001/archderm.1977.01640120042005 Toro, 1999, Birt-Hogg-Dubé syndrome. A novel marker of kidney neoplasia, Arch Dermatol, 135, 1195, 10.1001/archderm.135.10.1195 Toro, 2003, Facial papules, spontaneous pneumothorax, and renal tumors, J Am Acad Dermatol, 48, 111, 10.1067/mjd.2003.67 Misago, 2009, Fibrofolliculoma/trichodiscoma and fibrous papule (perifollicular fibroma/angiofibroma): a revaluation of the histopathological and immunohistochemical features, J Cutan Pathol, 36, 943, 10.1111/j.1600-0560.2009.01198.x Schaffer, 2005, Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome, J Am Acad Dermatol, 53, S108, 10.1016/j.jaad.2004.11.021 van Slegtenhorst, 2007, The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe, J Biol Chem, 282, 24583, 10.1074/jbc.M700857200 Kluger, 2010, Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 french families, Br J Dermatol, 162, 527, 10.1111/j.1365-2133.2009.09517.x Roth, 1993, Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome, J Am Acad Dermatol, 29, 1055, 10.1016/S0190-9622(08)82049-X Toro, 2007, Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dubé Syndrome, Am J Respir Crit Care Med, 175, 1044, 10.1164/rccm.200610-1483OC Pavlovich, 2005, Evaluation and Management of renal tumors in the Birt-Hogg-Dubé syndrome, J Urol, 173, 1482, 10.1097/01.ju.0000154629.45832.30 Toro, 2008, 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, 10.1136/jmg.2007.054304 Nickerson, 2002, Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with Birt-Hogg-Dubé syndrome, Cancer Cell, 2, 157, 10.1016/S1535-6108(02)00104-6 Hartman, 2009, The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis, Oncogene, 28, 1594, 10.1038/onc.2009.14 Zbar, 2002, Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome, Cancer Epidemiol Biomarkers Prev, 11, 393 Hudon, 2010, Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin, J Med Genet, 47, 182, 10.1136/jmg.2009.072009 Kunogi, 2010, Clinical and genetic spectrum of Birt-Hogg-Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature, J Med Genet, 47, 281, 10.1136/jmg.2009.070565 Melton, 1979, Incidence of spontaneous pneumothorax in Olmsted County, Minnesota: 1950 to 1974, Am Rev Resp Dis, 120, 1379 Welsch, 2005, Birt-Hogg-Dubé syndrome, Int J Dermatol, 44, 668, 10.1111/j.1365-4632.2004.02095.x Nahorski, 2010, Investigation of the Birt-Hogg-Dubé tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer, J Med Genet, 47, 385, 10.1136/jmg.2009.073304 Baba, 2006, Folliculin encoded by the BHD gene interacts with a binding protein FNIP1 and AMPK, and is involved in AMPK and MTOR signalling, Proc Natl Acad Sci USA, 103, 15552, 10.1073/pnas.0603781103 Lim, 2010, A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene, Hum Mutat, 31, E1043, 10.1002/humu.21130 Wei, 2009, The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome, Hum Mutat, 20, E880, 10.1002/humu.21075 Vocke, 2005, High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors, J Natl Cancer Inst, 97, 931, 10.1093/jnci/dji154 Steensel, 2007, Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients, J Invest Dermatol, 127, 588, 10.1038/sj.jid.5700592 Vincent, 2003, Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules, J Am Acad Dermatol, 49, 698, 10.1067/S0190-9622(03)01582-2 González Sarmiento R. Consejo genético. Guía para prevenir el cáncer hereditario. Disponible en: http://www.cicancer.org/documentospdf/Libro_consejo_genetico_CIC2009.pdf. Menko, 2009, Birt-Hogg-Dubé syndrome: diagnosis and management, Lancet Oncol, 10, 1199, 10.1016/S1470-2045(09)70188-3 Farooq, 2010, Cowden syndrome, Cancer Treat Rev, 36, 577, 10.1016/j.ctrv.2010.04.002 Borkowska, 2011, Tuberous sclerosis complex: tumors and tumorigenesis, Int J Dermatol, 50, 13, 10.1111/j.1365-4632.2010.04727.x Allende, 2011, Síndrome de Brooke-Spiegler: tratamiento de los tricoepiteliomas con láser de CO2, Actas Dermosifiliogr, 102, 76, 10.1016/j.ad.2010.06.023 van Steensel, 2001, A case of Rombo syndrome, Br J Dermatol, 144, 1215, 10.1046/j.1365-2133.2001.04235.x Ashinoff, 1993, Rombo syndrome: a second case report and review, J Am Acad Dermatol, 28, 1011, 10.1016/S0190-9622(08)80656-1 Mills, 2010, Basaloid follicular hamartoma, Arch Pathol Lab Med, 134, 1215, 10.5858/2008-0620-RS.1 Gambichler, 2000, Treatment of Birt-Hogg-Dubé syndrome with erbium: YAG laser, J Am Acad Dermatol, 43, 856, 10.1067/mjd.2000.109294 Jacob, 2001, Birt-Hogg-Dubé syndrome: treatment of cutaneous manifestations with laser skin resurfacing, Arch Dermatol, 137, 98 van Steensel M. Topical Rapamycin to Treat Fibrofolliculomas in Birt-Hogg-Dubé Syndrome (NCT00928798). Disponible en: http://clinicaltrials.gov/ct2/show/NCT00928798. Herring, 2001, Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: a 10-year experience, J Urol, 165, 777, 10.1016/S0022-5347(05)66524-X Rongioletti, 1989, Fibrofolliculomas, trichodiscomas and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyposis, Clin Exp Dermatol, 14, 72, 10.1111/j.1365-2230.1989.tb00890.x