{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:44:37Z","timestamp":1760730277598,"version":"3.44.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2012,4,1]],"date-time":"2012-04-01T00:00:00Z","timestamp":1333238400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,4,1]],"date-time":"2012-04-01T00:00:00Z","timestamp":1333238400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Actas Dermo-Sifiliogr\u00e1ficas"],"published-print":{"date-parts":[[2012,4]]},"DOI":"10.1016\/j.ad.2011.07.009","type":"journal-article","created":{"date-parts":[[2011,9,20]],"date-time":"2011-09-20T01:05:37Z","timestamp":1316480737000},"page":"198-206","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Actualizaci\u00f3n en el s\u00edndrome Birt-Hogg-Dub\u00e9"],"prefix":"10.1016","volume":"103","author":[{"given":"V.","family":"L\u00f3pez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Jord\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Monteagudo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ad.2011.07.009_bib0005","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1001\/archderm.1977.01640120042005","article-title":"Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons","volume":"113","author":"Birt","year":"1977","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0010","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1001\/archderm.135.10.1195","article-title":"Birt-Hogg-Dub\u00e9 syndrome. A novel marker of kidney neoplasia","volume":"135","author":"Toro","year":"1999","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0015","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1067\/mjd.2003.67","article-title":"Facial papules, spontaneous pneumothorax, and renal tumors","volume":"48","author":"Toro","year":"2003","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0020","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1111\/j.1600-0560.2009.01198.x","article-title":"Fibrofolliculoma\/trichodiscoma and fibrous papule (perifollicular fibroma\/angiofibroma): a revaluation of the histopathological and immunohistochemical features","volume":"36","author":"Misago","year":"2009","journal-title":"J Cutan Pathol"},{"key":"10.1016\/j.ad.2011.07.009_bib0025","doi-asserted-by":"crossref","first-page":"S108","DOI":"10.1016\/j.jaad.2004.11.021","article-title":"Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dub\u00e9 syndrome","volume":"53","author":"Schaffer","year":"2005","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0030","doi-asserted-by":"crossref","first-page":"24583","DOI":"10.1074\/jbc.M700857200","article-title":"The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe","volume":"282","author":"van Slegtenhorst","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ad.2011.07.009_bib0035","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1111\/j.1365-2133.2009.09517.x","article-title":"Birt-Hogg-Dub\u00e9 syndrome: clinical and genetic studies of 10 french families","volume":"162","author":"Kluger","year":"2010","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0040","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1016\/S0190-9622(08)82049-X","article-title":"Bilateral renal cell carcinoma in the Birt-Hogg-Dub\u00e9 syndrome","volume":"29","author":"Roth","year":"1993","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0045","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1164\/rccm.200610-1483OC","article-title":"Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dub\u00e9 Syndrome","volume":"175","author":"Toro","year":"2007","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.ad.2011.07.009_bib0050","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1097\/01.ju.0000154629.45832.30","article-title":"Evaluation and Management of renal tumors in the Birt-Hogg-Dub\u00e9 syndrome","volume":"173","author":"Pavlovich","year":"2005","journal-title":"J Urol"},{"key":"10.1016\/j.ad.2011.07.009_bib0055","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.2007.054304","article-title":"BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dub\u00e9 syndrome: a new series of 50 families and a review of published reports","volume":"45","author":"Toro","year":"2008","journal-title":"J Med Genet"},{"key":"10.1016\/j.ad.2011.07.009_bib0060","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S1535-6108(02)00104-6","article-title":"Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with Birt-Hogg-Dub\u00e9 syndrome","volume":"2","author":"Nickerson","year":"2002","journal-title":"Cancer Cell"},{"key":"10.1016\/j.ad.2011.07.009_bib0065","doi-asserted-by":"crossref","first-page":"1594","DOI":"10.1038\/onc.2009.14","article-title":"The role of the Birt-Hogg-Dub\u00e9 protein in mTOR activation and renal tumorigenesis","volume":"28","author":"Hartman","year":"2009","journal-title":"Oncogene"},{"key":"10.1016\/j.ad.2011.07.009_bib0070","first-page":"393","article-title":"Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dub\u00e9 syndrome","volume":"11","author":"Zbar","year":"2002","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.ad.2011.07.009_bib0075","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1136\/jmg.2009.072009","article-title":"Renal tumour suppressor function of the Birt-Hogg-Dub\u00e9 syndrome gene product folliculin","volume":"47","author":"Hudon","year":"2010","journal-title":"J Med Genet"},{"key":"10.1016\/j.ad.2011.07.009_bib0080","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2009.070565","article-title":"Clinical and genetic spectrum of Birt-Hogg-Dub\u00e9 syndrome patients in whom pneumothorax and\/or multiple lung cysts are the presenting feature","volume":"47","author":"Kunogi","year":"2010","journal-title":"J Med Genet"},{"key":"10.1016\/j.ad.2011.07.009_bib0085","first-page":"1379","article-title":"Incidence of spontaneous pneumothorax in Olmsted County, Minnesota: 1950 to 1974","volume":"120","author":"Melton","year":"1979","journal-title":"Am Rev Resp Dis"},{"key":"10.1016\/j.ad.2011.07.009_bib0090","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1111\/j.1365-4632.2004.02095.x","article-title":"Birt-Hogg-Dub\u00e9 syndrome","volume":"44","author":"Welsch","year":"2005","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0095","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1136\/jmg.2009.073304","article-title":"Investigation of the Birt-Hogg-Dub\u00e9 tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer","volume":"47","author":"Nahorski","year":"2010","journal-title":"J Med Genet"},{"key":"10.1016\/j.ad.2011.07.009_bib0100","doi-asserted-by":"crossref","first-page":"15552","DOI":"10.1073\/pnas.0603781103","article-title":"Folliculin encoded by the BHD gene interacts with a binding protein FNIP1 and AMPK, and is involved in AMPK and MTOR signalling","volume":"103","author":"Baba","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.ad.2011.07.009_bib0105","doi-asserted-by":"crossref","first-page":"E1043","DOI":"10.1002\/humu.21130","article-title":"A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene","volume":"31","author":"Lim","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ad.2011.07.009_bib0110","doi-asserted-by":"crossref","first-page":"E880","DOI":"10.1002\/humu.21075","article-title":"The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dub\u00e9 syndrome","volume":"20","author":"Wei","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ad.2011.07.009_bib0115","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1093\/jnci\/dji154","article-title":"High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dub\u00e9-associated renal tumors","volume":"97","author":"Vocke","year":"2005","journal-title":"J Natl Cancer Inst"},{"key":"10.1016\/j.ad.2011.07.009_bib0120","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1038\/sj.jid.5700592","article-title":"Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dub\u00e9 patients","volume":"127","author":"Steensel","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0125","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1067\/S0190-9622(03)01582-2","article-title":"Birt-Hogg-Dub\u00e9 syndrome: a review of the literature and the differential diagnosis of firm facial papules","volume":"49","author":"Vincent","year":"2003","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0130","unstructured":"Gonz\u00e1lez Sarmiento R. Consejo gen\u00e9tico. Gu\u00eda para prevenir el c\u00e1ncer hereditario. Disponible en: http:\/\/www.cicancer.org\/documentospdf\/Libro_consejo_genetico_CIC2009.pdf."},{"key":"10.1016\/j.ad.2011.07.009_bib0135","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1016\/S1470-2045(09)70188-3","article-title":"Birt-Hogg-Dub\u00e9 syndrome: diagnosis and management","volume":"10","author":"Menko","year":"2009","journal-title":"Lancet Oncol"},{"key":"10.1016\/j.ad.2011.07.009_bib0140","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.ctrv.2010.04.002","article-title":"Cowden syndrome","volume":"36","author":"Farooq","year":"2010","journal-title":"Cancer Treat Rev"},{"key":"10.1016\/j.ad.2011.07.009_bib0145","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/j.1365-4632.2010.04727.x","article-title":"Tuberous sclerosis complex: tumors and tumorigenesis","volume":"50","author":"Borkowska","year":"2011","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0150","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ad.2010.06.023","article-title":"S\u00edndrome de Brooke-Spiegler: tratamiento de los tricoepiteliomas con l\u00e1ser de CO2","volume":"102","author":"Allende","year":"2011","journal-title":"Actas Dermosifiliogr"},{"key":"10.1016\/j.ad.2011.07.009_bib0155","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1046\/j.1365-2133.2001.04235.x","article-title":"A case of Rombo syndrome","volume":"144","author":"van Steensel","year":"2001","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0160","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1016\/S0190-9622(08)80656-1","article-title":"Rombo syndrome: a second case report and review","volume":"28","author":"Ashinoff","year":"1993","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0165","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.5858\/2008-0620-RS.1","article-title":"Basaloid follicular hamartoma","volume":"134","author":"Mills","year":"2010","journal-title":"Arch Pathol Lab Med"},{"key":"10.1016\/j.ad.2011.07.009_bib0170","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1067\/mjd.2000.109294","article-title":"Treatment of Birt-Hogg-Dub\u00e9 syndrome with erbium: YAG laser","volume":"43","author":"Gambichler","year":"2000","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0175","first-page":"98","article-title":"Birt-Hogg-Dub\u00e9 syndrome: treatment of cutaneous manifestations with laser skin resurfacing","volume":"137","author":"Jacob","year":"2001","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.ad.2011.07.009_bib0180","unstructured":"van Steensel M. Topical Rapamycin to Treat Fibrofolliculomas in Birt-Hogg-Dub\u00e9 Syndrome (NCT00928798). Disponible en: http:\/\/clinicaltrials.gov\/ct2\/show\/NCT00928798."},{"key":"10.1016\/j.ad.2011.07.009_bib0185","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/S0022-5347(05)66524-X","article-title":"Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: a 10-year experience","volume":"165","author":"Herring","year":"2001","journal-title":"J Urol"},{"key":"10.1016\/j.ad.2011.07.009_bib0190","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1111\/j.1365-2230.1989.tb00890.x","article-title":"Fibrofolliculomas, trichodiscomas and acrochordons (Birt-Hogg-Dub\u00e9) associated with intestinal polyposis","volume":"14","author":"Rongioletti","year":"1989","journal-title":"Clin Exp Dermatol"}],"container-title":["Actas Dermo-Sifiliogr\u00e1ficas"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000173101100367X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000173101100367X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T00:57:51Z","timestamp":1757552271000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000173101100367X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4]]},"references-count":38,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["S000173101100367X"],"URL":"https:\/\/doi.org\/10.1016\/j.ad.2011.07.009","relation":{},"ISSN":["0001-7310"],"issn-type":[{"type":"print","value":"0001-7310"}],"subject":[],"published":{"date-parts":[[2012,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Actualizaci\u00f3n en el s\u00edndrome Birt-Hogg-Dub\u00e9","name":"articletitle","label":"Article Title"},{"value":"Actas Dermo-Sifiliogr\u00e1ficas","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ad.2011.07.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier Espa\u00f1a, S.L. and AEDV. All rights reserved.","name":"copyright","label":"Copyright"}]}}