{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:31:29Z","timestamp":1762432289845},"reference-count":32,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,7]]},"DOI":"10.7759\/cureus.35866","type":"journal-article","created":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T16:42:16Z","timestamp":1678207336000},"source":"Crossref","is-referenced-by-count":1,"title":["Presentation and Management of a Novel Ehlers-Danlos COL5A1 Variant With Birt-Hogg-Dube Syndrome: A Case Study"],"prefix":"10.7759","author":[{"given":"Avery N","family":"Love","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o","article-title":"Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)","volume":"77","author":"Beighton P","year":"1998","unstructured":"Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998, 77:31-7. 10.1002\/(sici)1096-8628(19980428)77:1&lt;31::aid-ajmg8&gt;3.0.co;2-o","journal-title":"Am J Med Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290316","article-title":"International nosology of heritable disorders of connective tissue, Berlin, 1986","volume":"29","author":"Beighton P","year":"1988","unstructured":"Beighton P, de Paepe A, Danks D, et al.. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 1988, 29:581-94. 10.1002\/ajmg.1320290316","journal-title":"Am J Med Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31552","article-title":"The 2017 international classification of the Ehlers-Danlos syndromes","volume":"175","author":"Malfait F","year":"2017","unstructured":"Malfait F, Francomano C, Byers P, et al.. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017, 175:8-26. 10.1002\/ajmg.c.31552","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"ref4","article-title":"Harrison's Principles of Internal Medicine\u00a0(17th edition)","author":"Kasper DL","year":"2015","unstructured":"Kasper DL, Fauci AS, Hauser SL, et al.. Harrison's Principles of Internal Medicine\u00a0(17th edition). McGraw Hill Education, New York; 2015."},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181eed412","article-title":"Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type","volume":"12","author":"Malfait F","year":"2010","unstructured":"Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010, 12:597-605. 10.1097\/GIM.0b013e3181eed412","journal-title":"Genet Med"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20107","article-title":"The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients","volume":"25","author":"Malfait F","year":"2005","unstructured":"Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat. 2005, 25:28-37. 10.1002\/humu.20107","journal-title":"Hum Mutat"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1086\/302930","article-title":"COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS","volume":"66","author":"Wenstrup RJ","year":"2000","unstructured":"Wenstrup RJ, Florer JB, Willing MC, et al.. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Hum Genet. 2000, 66:1766-76. 10.1086\/302930","journal-title":"Am J Hum Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1086\/302933","article-title":"Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II)","volume":"66","author":"Schwarze U","year":"2000","unstructured":"Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet. 2000, 66:1757-65. 10.1086\/302933","journal-title":"Am J Hum Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21000","article-title":"Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)","volume":"30","author":"Mitchell AL","year":"2009","unstructured":"Mitchell AL, Schwarze U, Jennings JF, Byers PH. Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS). Hum Mutat. 2009, 30:995-1002. 10.1002\/humu.21000","journal-title":"Hum Mutat"},{"key":"ref10","article-title":"Cutaneous signs in heritable disorders of the connective tissue","volume":"70","author":"Inamadar AC","year":"2004","unstructured":"Inamadar AC, Palit A. Cutaneous signs in heritable disorders of the connective tissue. Indian J Dermatol Venereol Leprol. 2004, 70:253-5.","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-020-00568-5","article-title":"Bone disease in patients with Ehlers-Danlos syndromes","volume":"18","author":"Basalom S","year":"2020","unstructured":"Basalom S, Rauch F. Bone disease in patients with Ehlers-Danlos syndromes. Curr Osteoporos Rep. 2020, 18:95-102. 10.1007\/s11914-020-00568-5","journal-title":"Curr Osteoporos Rep"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200205000-00003","article-title":"Prevalence of aortic root dilation in the Ehlers-Danlos syndrome","volume":"4","author":"Wenstrup RJ","year":"2002","unstructured":"Wenstrup RJ, Meyer RA, Lyle JS, Hoechstetter L, Rose PS, Levy HP, Francomano CA. Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genet Med. 2002, 4:112-7. 10.1097\/00125817-200205000-00003","journal-title":"Genet Med"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31035","article-title":"Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes","volume":"140","author":"McDonnell NB","year":"2006","unstructured":"McDonnell NB, Gorman BL, Mandel KW, et al.. Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. Am J Med Genet A. 2006, 140:129-36. 10.1002\/ajmg.a.31035","journal-title":"Am J Med Genet A"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.11.023","article-title":"Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome","volume":"158","author":"Atzinger CL","year":"2011","unstructured":"Atzinger CL, Meyer RA, Khoury PR, Gao Z, Tinkle BT. Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. J Pediatr. 2011, 158:826-830.e1. 10.1016\/j.jpeds.2010.11.023","journal-title":"J Pediatr"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(09)70188-3","article-title":"Birt-Hogg-Dub\u00e9 syndrome: diagnosis and management","volume":"10","author":"Menko FH","year":"2009","unstructured":"Menko FH, Van Steensel MAM, Giraud S, et al.. Birt-Hogg-Dub\u00e9 syndrome: diagnosis and management. The Lancet Oncology. 2009, 10:1199-206. 10.1016\/S1470-2045(09)70188-3","journal-title":"The Lancet Oncology"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1086\/323744","article-title":"Birt-Hogg-Dub\u00e9 syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2","volume":"69","author":"Schmidt LS","year":"2001","unstructured":"Schmidt LS, Warren MB, Nickerson ML, et al.. Birt-Hogg-Dub\u00e9 syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet. 2001, 69:876-82. 10.1086\/323744","journal-title":"Am J Hum Genet"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.667311","article-title":"Folliculin: a regulator of transcription through AMPK and mTOR signaling pathways","volume":"9","author":"Ramirez Reyes JM","year":"2021","unstructured":"Ramirez Reyes JM, Cuesta R, Pause A. Folliculin: a regulator of transcription through AMPK and mTOR signaling pathways. Front Cell Dev Biol. 2021, 9:667311. 10.3389\/fcell.2021.667311","journal-title":"Front Cell Dev Biol"},{"key":"ref18","doi-asserted-by":"publisher","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 JV","year":"2005","unstructured":"Schaffer JV, Gohara MA, McNiff JM, Aasi SZ, Dvoretzky I. Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dub\u00e9 syndrome. J Am Acad Dermatol. 2005, 53:S108-11. 10.1016\/j.jaad.2004.11.021","journal-title":"J Am Acad Dermatol"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200212000-00002","article-title":"Renal tumors in the Birt-Hogg-Dub\u00e9 syndrome","volume":"26","author":"Pavlovich CP","year":"2002","unstructured":"Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, Merino MJ. Renal tumors in the Birt-Hogg-Dub\u00e9 syndrome. Am J Surg Pathol. 2002, 26:1542-52. 10.1097\/00000478-200212000-00002","journal-title":"Am J Surg Pathol"},{"key":"ref20","doi-asserted-by":"publisher","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 CP","year":"2005","unstructured":"Pavlovich CP, Grubb RL 3rd, Hurley K, et al.. Evaluation and management of renal tumors in the Birt-Hogg-Dub\u00e9 syndrome. J Urol. 2005, 173:1482-6. 10.1097\/01.ju.0000154629.45832.30","journal-title":"J Urol"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01159.x","article-title":"Early onset of renal cancer in a family with Birt-Hogg-Dub\u00e9 syndrome","volume":"75","author":"Kluijt I","year":"2009","unstructured":"Kluijt I, de Jong D, Teertstra HJ, et al.. Early onset of renal cancer in a family with Birt-Hogg-Dub\u00e9 syndrome. Clin Genet. 2009, 75:537-43. 10.1111\/j.1399-0004.2009.01159.x","journal-title":"Clin Genet"},{"key":"ref22","doi-asserted-by":"publisher","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 JR","year":"2008","unstructured":"Toro JR, Wei MH, Glenn GM, et al.. 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. J Med Genet. 2008, 45:321-31. 10.1136\/jmg.2007.054304","journal-title":"J Med Genet"},{"key":"ref23","doi-asserted-by":"publisher","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 JR","year":"2007","unstructured":"Toro JR, Pautler SE, Stewart L, et al.. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dub\u00e9 syndrome. Am J Respir Crit Care Med. 2007, 175:1044-53. 10.1164\/rccm.200610-1483OC","journal-title":"Am J Respir Crit Care Med"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003233421207","article-title":"Spontaneous pneumothorax","volume":"342","author":"Sahn SA","year":"2000","unstructured":"Sahn SA, Heffner JE. Spontaneous pneumothorax. N Engl J Med. 2000, 342:868-74. 10.1056\/NEJM200003233421207","journal-title":"N Engl J Med"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.crad.2008.09.015","article-title":"Cysts, cavities, and honeycombing in multisystem disorders: differential diagnosis and findings on thin-section CT","volume":"64","author":"Grant LA","year":"2009","unstructured":"Grant LA, Babar J, Griffin N. Cysts, cavities, and honeycombing in multisystem disorders: differential diagnosis and findings on thin-section CT. Clin Radiol. 2009, 64:439-48. 10.1016\/j.crad.2008.09.015","journal-title":"Clin Radiol"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9657-4","article-title":"Diagnosis and management of BHD-associated kidney cancer","volume":"12","author":"Stamatakis L","year":"2013","unstructured":"Stamatakis L, Metwalli AR, Middelton LA, Marston Linehan W. Diagnosis and management of BHD-associated kidney cancer. Fam Cancer. 2013, 12:397-402. 10.1007\/s10689-013-9657-4","journal-title":"Fam Cancer"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.198.3.8628872","article-title":"Small (< or = 3-cm) renal masses: detection with CT versus US and pathologic correlation","volume":"198","author":"Jamis-Dow CA","year":"1996","unstructured":"Jamis-Dow CA, Choyke PL, Jennings SB, Linehan WM, Thakore KN, Walther MM. Small (&lt; or = 3-cm) renal masses: detection with CT versus US and pathologic correlation. Radiology. 1996, 198:785-8. 10.1148\/radiology.198.3.8628872","journal-title":"Radiology"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2012.11.062","article-title":"Medical management of thoracic aortic aneurysm disease","volume":"145","author":"Braverman AC","year":"2013","unstructured":"Braverman AC. Medical management of thoracic aortic aneurysm disease. J Thorac Cardiovasc Surg. 2013, 145:S2-6. 10.1016\/j.jtcvs.2012.11.062","journal-title":"J Thorac Cardiovasc Surg"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1016\/j.avsg.2013.03.002","article-title":"Morphologic and biomechanical changes of thoracic and abdominal aorta in a rat model of cigarette smoke exposure","volume":"27","author":"Jaldin RG","year":"2013","unstructured":"Jaldin RG, Castardelli \u00c9, Perobelli JE, Yoshida WB, de Castro Rodrigues A, Sequeira JL, Paiva SA. Morphologic and biomechanical changes of thoracic and abdominal aorta in a rat model of cigarette smoke exposure. Ann Vasc Surg. 2013, 27:791-800. 10.1016\/j.avsg.2013.03.002","journal-title":"Ann Vasc Surg"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0b013e3181d4739e","article-title":"2010 ACCF\/AHA\/AATS\/ACR\/ASA\/SCA\/SCAI\/SIR\/STS\/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease","volume":"121","author":"Hiratzka LF","year":"2010","unstructured":"Hiratzka LF, Bakris GL, Beckman JA, et al.. 2010 ACCF\/AHA\/AATS\/ACR\/ASA\/SCA\/SCAI\/SIR\/STS\/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease. Circulation. 2010, 121:e266-369. 10.1161\/CIR.0b013e3181d4739e","journal-title":"Circulation"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccl.2010.01.002","article-title":"Does medical therapy for thoracic aortic aneurysms really work? Are beta-blockers truly indicated? CON","volume":"28","author":"Liao SL","year":"2010","unstructured":"Liao SL, Elmariah S, van der Zee S, Sealove BA, Fuster V. Does medical therapy for thoracic aortic aneurysms really work? Are beta-blockers truly indicated? CON. Cardiol Clin. 2010, 28:261-9. 10.1016\/j.ccl.2010.01.002","journal-title":"Cardiol Clin"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000331","article-title":"Surgery for aortic dilatation in patients with bicuspid aortic valves: a statement of clarification from the American College of Cardiology\/American Heart Association Task Force on clinical practice guidelines","volume":"133","author":"Hiratzka LF","year":"2016","unstructured":"Hiratzka LF, Creager MA, Isselbacher EM, et al.. Surgery for aortic dilatation in patients with bicuspid aortic valves: a statement of clarification from the American College of Cardiology\/American Heart Association Task Force on clinical practice guidelines. Circulation. 2016, 133:680-6. 10.1161\/CIR.0000000000000331","journal-title":"Circulation"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/134785-presentation-and-management-of-a-novel-ehlers-danlos-col5a1-variant-with-birt-hogg-dube-syndrome-a-case-study","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:54:09Z","timestamp":1707508449000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/134785-presentation-and-management-of-a-novel-ehlers-danlos-col5a1-variant-with-birt-hogg-dube-syndrome-a-case-study"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,7]]},"references-count":32,"URL":"https:\/\/doi.org\/10.7759\/cureus.35866","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,3,7]]}}}