{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:43:25Z","timestamp":1740149005739,"version":"3.37.3"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T00:00:00Z","timestamp":1649980800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T00:00:00Z","timestamp":1649980800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this comment, we highlight the diagnosis of Birt\u2013Hogg\u2013Dub\u00e9 (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indicated trichodyscomas and which are considered equivalent to fibrofolliculomas, presence of bilateral renal mass suggestive of angiomyolipomas by imaging exams. A benign\/likely benign variant of <jats:italic>FLCN<\/jats:italic> in the intron 13 was also detected. Still, his previous pathological history presented other relevant data such as the prior removal of vocal cord angioma, total thyroidectomy, and left parotidectomy due to a cystic lesion whose histopathological examination revealed the presence of oncocytoma and lipomatosis, in addition to basal cell cutaneous carcinoma. Simultaneous gastrointestinal hyperplastic polyposis was found in this patient. The case we reported does not have the genotypic and phenotypic expressions most present in BHDS. These facts make it important for readers to know the clinical and genetic presentation facets of this unusual syndrome.<\/jats:p>","DOI":"10.1186\/s12920-022-01233-9","type":"journal-article","created":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T14:03:19Z","timestamp":1650031399000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Comment on Balsamo et al.: \u201cBirt\u2013Hogg\u2013Dub\u00e9 syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature\u201d"],"prefix":"10.1186","volume":"15","author":[{"given":"Fl\u00e1via","family":"Balsamo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro Augusto Soffner","family":"Cardoso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio Aparecido","family":"do Amaral Junior","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ther\u00e9s\u00e8 Rachell","family":"Theodoro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavia","family":"de Sousa Gehrke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Aparecida","family":"da Silva Pinhal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8669-3562","authenticated-orcid":false,"given":"Bianca","family":"Bianco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaques","family":"Waisberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,4,15]]},"reference":[{"key":"1233_CR1","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1111\/j.1365-4362.1996.tb03642.x","volume":"35","author":"JY Chung","year":"1996","unstructured":"Chung JY, Ramos-Caro FA, Beers B, Ford MJ, Flowers F. Multiple lipomas, angiolipomas and parathyroid adenomas in a patient with Birt\u2013Hogg\u2013Dube syndrome. Int J Dermatol. 1996;35:365\u20137.","journal-title":"Int J Dermatol"},{"key":"1233_CR2","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1016\/S1470-2045(09)70188-3","volume":"10","author":"FH Menko","year":"2009","unstructured":"Menko FH, van Steensel MA, Giraud S, et al. Birt\u2013Hogg\u2013Dub\u00e9 syndrome: diagnosis and management. Lancet Oncol. 2009;10:1199\u2013206.","journal-title":"Lancet Oncol"},{"key":"1233_CR3","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1136\/jclinpath-2012-201200","volume":"66","author":"M Furuya","year":"2013","unstructured":"Furuya M, Nakatani Y. Birt\u2013Hogg\u2013Dub\u00e9 syndrome: clinico-pathological features of the lung. J Clin Pathol. 2013;66:178\u201386.","journal-title":"J Clin Pathol"},{"key":"1233_CR4","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1007\/s10689-013-9660-9","volume":"12","author":"N Gupta","year":"2013","unstructured":"Gupta N, Seyama K, McCormack FX. Pulmonary manifestations of Birt\u2013Hogg\u2013Dub\u00e9 syndrome. Fam Cancer. 2013;12:387\u201396.","journal-title":"Fam Cancer"},{"key":"1233_CR5","doi-asserted-by":"crossref","unstructured":"Sasso AAD, Bel\u00e9m LC, Zanetti G, Souza CA, Escuissato DL, Irion KL, Guimar\u00e3es MD, Marchiori E. Birt\u2013Hogg\u2013Dub\u00e9 syndrome. State-of-the-art review with emphasis on pulmonary involvement. Resp Med. 2015;109:289\u201396.","DOI":"10.1016\/j.rmed.2014.11.008"},{"key":"1233_CR6","doi-asserted-by":"crossref","unstructured":"Mohan Das L, Rang CE, Banka R. Birt\u2013Hogg\u2013Dub\u00e9 syndrome: a rare cause of cystic lung diseases. BMJ Case Rep. 2013;2013:bcr2013008826.","DOI":"10.1136\/bcr-2013-008826"},{"key":"1233_CR7","first-page":"1195","volume":"135","author":"JR Toro","year":"1999","unstructured":"Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zbar B, et al. Birt\u2013Hogg\u2013Dube syndrome: a novel marker of kidney neoplasia. Arch Dermatol. 1999;135:1195\u2013202.","journal-title":"Arch Dermatol"},{"key":"1233_CR8","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1086\/430842","volume":"76","author":"LS Schmidt","year":"2005","unstructured":"Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHD mutation spectrum and phenotype analysis of a large cohort of families with Birt\u2013Hogg\u2013Dub\u00e9 syndrome. Am J Hum Genet. 2005;76:1023\u201333.","journal-title":"Am J Hum Genet"},{"key":"1233_CR9","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1111\/j.1365-2133.2009.09517.x","volume":"162","author":"N Kluger","year":"2010","unstructured":"Kluger N, Giraud S, Coupier L, et al. Birt\u2013Hogg\u2013Dub\u00e9 syndrome: clinical and genetic studies of 10 French families. Br J Dermatol. 2010;162:527\u201337.","journal-title":"Br J Dermatol"},{"key":"1233_CR10","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1136\/jmg.2007.054304","volume":"45","author":"JR Toro","year":"2008","unstructured":"Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, et al. BHD mutations, clinical and molecular genetic investigations of Birt\u2013Hogg\u2013Dub\u00e9 syndrome: a new series of 50 families and a review of published reports. J Med Genet. 2008;45:321\u201331.","journal-title":"J Med Genet"},{"key":"1233_CR11","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1136\/jmg.2009.070565","volume":"47","author":"M Kunogi","year":"2010","unstructured":"Kunogi M, Kurihama M, Ikegami TS, et al. Clinical and genetic spectrum of Birt\u2013Hogg\u2013Dub\u00e9 syndrome patients in whom pneumothorax and\/or multiple lung cysts are the presenting feature. J Med Genet. 2010;47:281\u20137.","journal-title":"J Med Genet"},{"key":"1233_CR12","doi-asserted-by":"crossref","unstructured":"Rehman HU. Birt\u2013Hogg\u2013Dub\u00e9 syndrome: report of a new mutation.Can Respir J. 2012; 19, 193\u20135","DOI":"10.1155\/2012\/734985"},{"key":"1233_CR13","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.eururo.2016.01.048","volume":"70","author":"JR Bhatt","year":"2016","unstructured":"Bhatt JR, Richard PO, Kim NS, Finelli A, Manickavachagam K, Legere L, Evans A, Pei Y, Sykes J, Jhaveri K, Jewett MA. Natural history of renal Angiomyolipoma (AML): Most patients with large AMLs >4cm can be offered active surveillance as an initial management strategy. Eur Urol. 2016;70:85\u201390.","journal-title":"Eur Urol"},{"key":"1233_CR14","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/nrurol.2015.206","volume":"12","author":"LS Schmidt","year":"2015","unstructured":"Schmidt LS, Linehan WM. Molecular genetics and clinical features of Birt\u2013Hogg\u2013Dub\u00e9 syndrome. Nat Rev Urol. 2015;12:558\u201369.","journal-title":"Nat Rev Urol"},{"key":"1233_CR15","doi-asserted-by":"crossref","unstructured":"Schulz T, Hartschuh W. Birt\u2013Hogg\u2013Dub\u00e9 syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology. J Cutan Pathol. 1999; 26:55\u201361.","DOI":"10.1111\/j.1600-0560.1999.tb01792.x"},{"key":"1233_CR16","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1016\/j.ajpath.2015.10.013","volume":"186","author":"Y Iribe","year":"2016","unstructured":"Iribe Y, Yao M, Tanaka R, Kuroda N, Nagashima Y, Nakatani Y, Furuya M. Genome-wide uniparental disomy and copy number variations in renal cell carcinomas associated with Birt\u2013Hogg\u2013Dub\u00e9 syndrome. Am J Pathol. 2016;186:337\u201346.","journal-title":"Am J Pathol"},{"key":"1233_CR17","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.2169\/internalmedicine.51.7211","volume":"51","author":"K Tobino","year":"2012","unstructured":"Tobino K, Seyama K. Birt\u2013Hogg\u2013Dub\u00e9 syndrome with renal angiomyolipoma. Intern Med. 2012;51:1279\u201380.","journal-title":"Intern Med"},{"key":"1233_CR18","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1097\/DAD.0b013e318259b593","volume":"35","author":"P Spring","year":"2013","unstructured":"Spring P, Fellmann F, Giraud S, Clayton H, Hohl D. Syndrome of Birt\u2013Hogg\u2013Dub\u00e9, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases. Am J Dermatopathol. 2013;35:241\u20135.","journal-title":"Am J Dermatopathol"},{"key":"1233_CR19","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.critrevonc.2012.07.001","volume":"85","author":"G Ponti","year":"2013","unstructured":"Ponti G, Pellacani G, Seidenari S, Pollio A, Muscatello U, et al. Cancer associated genodermatoses: skin neoplasms as clues to hereditary tumor syndromes. Crit Rev Oncol Hematol. 2013;85:239\u201356.","journal-title":"Crit Rev Oncol Hematol"},{"key":"1233_CR20","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/nrurol.2015.206","volume":"12","author":"LS Schimidt","year":"2015","unstructured":"Schimidt LS, Linehan WM. Molecular genetics and clinical features of Birt\u2013Hogg\u2013Dub\u00e9 syndrome. Nat Rev Urol. 2015;12:558\u201369.","journal-title":"Nat Rev Urol"},{"key":"1233_CR21","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1111\/j.1600-0560.2009.01198.x","volume":"36","author":"N Misagno","year":"2009","unstructured":"Misagno N, Kimura T, Narisawa Y. Fibrofolliculoma\/trichodiscoma and fibrous papule (perifollicular fibroma\/ angiofibroma): a revaluation of the histopathological and immunohistochemical features. J Cutan Pathol. 2009;36:943\u201351.","journal-title":"J Cutan Pathol"},{"key":"1233_CR22","doi-asserted-by":"publisher","first-page":"1044","DOI":"10.1164\/rccm.200610-1483OC","volume":"175","author":"JR Toro","year":"2007","unstructured":"Toro JR, Pautler SE, Stewart L, et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt\u2013Hogg\u2013Dub\u00e9 syndrome. Am J Respir Crit Care Med. 2007;175:1044\u201353.","journal-title":"Am J Respir Crit Care Med"},{"key":"1233_CR23","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1111\/j.1440-0960.2011.00738.x","volume":"53","author":"M Byrne","year":"2012","unstructured":"Byrne M, Mallipeddi R, Pichert G, Whittaker S. Birt\u2013Hogg\u2013Dub\u00e9 syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt\u2013Hogg\u2013Dub\u00e9 syndrome and tuberous sclerosis complex. Australas J Dermatol. 2012;53:151\u20134.","journal-title":"Australas J Dermatol"},{"key":"1233_CR24","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1634\/theoncologist.2010-0023","volume":"15","author":"PJ Morrison","year":"2010","unstructured":"Morrison PJ, Donnelly DE, Atkinson AB, Maxwell AP. Advances in the genetics of familial kidney cancer. Oncologist. 2010;15:532\u20138.","journal-title":"Oncologist"},{"key":"1233_CR25","doi-asserted-by":"publisher","first-page":"1482","DOI":"10.1097\/01.ju.0000154629.45832.30","volume":"173","author":"CP Pavlovich","year":"2005","unstructured":"Pavlovich CP, Grubb RL, Hurley K, Glen GM, Toro J, Schimidt LS, et al. Evaluation and Management of renal tumors in the Birt\u2013Hogg\u2013Dube syndrome. J Urol. 2005;173:1482\u20136.","journal-title":"J Urol"},{"key":"1233_CR26","doi-asserted-by":"publisher","first-page":"1247","DOI":"10.1002\/ajmg.a.35330","volume":"158","author":"R Happle","year":"2012","unstructured":"Happle R. Hornstein\u2013Birt\u2013Hogg\u2013Dub\u00e9 syndrome: a renaming and reconsideration. Am J Med Genet. 2012;158:1247\u201351.","journal-title":"Am J Med Genet"},{"key":"1233_CR27","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1136\/jmg.2009.073304","volume":"47","author":"MS Nahorski","year":"2010","unstructured":"Nahorski MS, Lim DHK, Martin L, Gille JJP, McKay K, et al. Investigation of the Birt\u2013Hogg\u2013Dub\u00e9 tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. J Med Genet. 2010;47:385\u201390.","journal-title":"J Med Genet"},{"key":"1233_CR28","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1111\/pin.12028","volume":"63","author":"T Nishii","year":"2013","unstructured":"Nishii T, Tanabe M, Tanaka R, Matsuzawa T, Okudela K, et al. Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt\u2013Hogg\u2013Dub\u00e9 syndrome. Pathol Int. 2013;63:45\u201355.","journal-title":"Pathol Int"},{"key":"1233_CR29","first-page":"751","volume":"30","author":"R Palmirotta","year":"2010","unstructured":"Palmirotta R, Savonarola A, Ludovici G, Donati P, Cavaliere F, et al. Association between Birt\u2013Hogg\u2013Dub\u00e9 syndrome and cancer predisposition. Anticancer Res. 2010;30:751\u20137.","journal-title":"Anticancer Res"},{"key":"1233_CR30","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1186\/s12920-018-0359-5","volume":"11","author":"M Furuya","year":"2018","unstructured":"Furuya M, Kobayashi H, Baba M, Ito T, Tanaka R, Nakatani Y. Splice-site mutation causing partial retention of intron in the FLCN gene in Birt\u2013Hogg\u2013Dub\u00e9 syndrome: a case report. BMC Med Genomics. 2018;11:42.","journal-title":"BMC Med Genomics"},{"key":"1233_CR31","first-page":"4173704","volume":"2018","author":"C Volk","year":"2018","unstructured":"Volk C, Matwiyoff G. Birt\u2013Hogg\u2013Dub\u00e9 syndrome caused by a novel mutation in the FLCL gene. Case Rep Genet. 2018;2018:4173704.","journal-title":"Case Rep Genet"},{"key":"1233_CR32","doi-asserted-by":"crossref","unstructured":"Kumar K, Ross C. Birt\u2013Hogg\u2013Dub\u00e9 syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology. BMJ Case Rep. 2019;12:e231039.","DOI":"10.1136\/bcr-2019-231039"},{"key":"1233_CR33","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1016\/j.jdcr.2019.02.009","volume":"5","author":"DJ Pithadia","year":"2019","unstructured":"Pithadia DJ, Treichel AM, Lee CR, Cowen EW, Linehan WM, Moss J, Darling TN. Birt\u2013Hogg\u2013Dub\u00e9 syndrome initially diagnosed as tuberous sclerosis complex. JAAD Case Rep. 2019;5:368\u201371.","journal-title":"JAAD Case Rep"},{"key":"1233_CR34","doi-asserted-by":"crossref","unstructured":"Enomoto Y, Namba Y, Hoshika Y, Komemushi Y, Mitani K, Kume H, Kobayashi E, Miyama Y, Homma Y, Ushiku T, Seyama K. A case of Birt\u2013Hogg\u2013Dub\u00e9 syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic. Eur J Med Genet. 2020;63:103820.","DOI":"10.1016\/j.ejmg.2019.103820"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01233-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-022-01233-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01233-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,16]],"date-time":"2022-04-16T15:11:48Z","timestamp":1650121908000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-022-01233-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,15]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["1233"],"URL":"https:\/\/doi.org\/10.1186\/s12920-022-01233-9","relation":{},"ISSN":["1755-8794"],"issn-type":[{"type":"electronic","value":"1755-8794"}],"subject":[],"published":{"date-parts":[[2022,4,15]]},"assertion":[{"value":"23 November 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 April 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 April 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The author declares that he has no competing interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"85"}}