{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T07:22:39Z","timestamp":1747207359107,"version":"3.40.5"},"reference-count":18,"publisher":"Bentham Science Publishers Ltd.","issue":"6","content-domain":{"domain":["eurekaselect.com"],"crossmark-restriction":true},"short-container-title":["CMIR"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:sec>\n<jats:title>Background:<\/jats:title>\n<jats:p>Birt-Hogg-Dub\u00e9 Syndrome (BHDS), an autosomal dominant hereditary\ncondition, occurs due to mutations in the gene encoding folliculin (FLCN) in the short arm of the\n17th chromosome characterized by lung cysts with specific skin findings and renal cell carcinoma.\nPatients have usually complaints related to dyspnea and chest pain due to pneumothorax but they\nmay be asymptomatic due to wide phenotypic heterogeneity. Herein, we report the imaging findings\nof a case 32-year-old male with BHDS without any symptom who was diagnosed incidentally\nby computed tomography (CT) due to organ donation.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Case Report:<\/jats:title>\n<jats:p>In a 32-year-old male patient evaluated as a potential liver donor, CT was performed\nfor preoperative preparation. The patient's medical history was unremarkable. In the CT examination,\nmultiple air cysts of different sizes in both lungs were observed and also, a 7-cm solid renal\nmass of the right kidney was observed in the dynamic examination. Due to a large number of lung\ncysts and the presence of solid renal tumors at a young age, BHDS was considered. The patient underwent\npartial nephrectomy, and the pathology result was hybrid oncocytic-chromophobe renal\ncell carcinoma. In the genetic examination, a heterozygous germline mutation was detected in the\n11th exon of the FLCN gene.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusion:<\/jats:title>\n<jats:p>While potential organ donors are generally healthy and asymptomatic individuals, incidental\nlesions can be detected in the donor organ or other organs in the examination area during\nradiological imaging. Although most incidental lesions are benign, important clinical conditions\ncan rarely be observed, as in our case. Familial and syndromic conditions should also be considered\nfor the presence of solid renal masses incidentally detected at a young age. To the best of\nour knowledge, this is the first reported case of BHDS in English literature who was diagnosed incidentally\non computed tomography for being a living liver donor.<\/jats:p>\n<\/jats:sec>","DOI":"10.2174\/1573405616666201217111929","type":"journal-article","created":{"date-parts":[[2020,12,18]],"date-time":"2020-12-18T07:26:13Z","timestamp":1608276373000},"page":"807-810","update-policy":"https:\/\/doi.org\/10.2174\/bsp_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Birt-hogg-Dub\u00e9 Syndrome Incidentally Identified in a Potential Liver Donor"],"prefix":"10.2174","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1729-6958","authenticated-orcid":true,"given":"Elif","family":"G\u00fcndo\u011fdu","sequence":"first","affiliation":[{"name":"Department of Radiology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir,Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5989-1897","authenticated-orcid":true,"given":"Emre","family":"Emekli","sequence":"additional","affiliation":[{"name":"Department of Radiology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir,Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6041-6636","authenticated-orcid":true,"given":"Ersoy","family":"Acer","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir,Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6902-0913","authenticated-orcid":true,"given":"\u0130lter","family":"\u00d6zer","sequence":"additional","affiliation":[{"name":"Department of General Surgery, Eskisehir Osmangazi University, Faculty of Medicine, Eskisehir,Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"965","reference":[{"key":"ref=1","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1001\/archderm.1977.01640120042005","volume":"113","author":"Birt A.R.","year":"1977","unstructured":"Birt A.R.; Hogg G.R.; Dub\u00e9 W.J.; Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. 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