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The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pulmonary cysts with pneumothoraces and renal tumours. We present the features of Polish patients with BHDS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and methods<\/jats:title>\n                    <jats:p>\n                      The first case of BHDS in Poland was diagnosed in 2016. Since then, 15 cases from 10 families have been identified. Thirteen patients were confirmed via direct\n                      <jats:italic>FLCN<\/jats:italic>\n                      sequencing, and two according to their characteristic clinical and radiological presentations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      BHDS was diagnosed in 15 cases (13 women and 2 men) from 10 families. The mean ages at the time of first pneumothorax and diagnosis were 38.4\u2009\u00b1\u200913.9 and 47.7\u2009\u00b1\u200913\u00a0years, respectively. Five patients (33%) were ex-smokers (2.1\u2009\u00b1\u20091.37 packyears), and 10 (67%) had never smoked cigarettes. Twelve patients (83%) had a history of recurrent symptomatic pneumothorax. Three patients had small, asymptomatic pneumothoraces, which were only detected upon computed tomography examination. All patients had multiple bilateral pulmonary cysts, distributed predominantly in the lower and middle, peripheral, and subpleural regions of the lungs. Generally, patients exhibited preserved lung function. Skin lesions were seen in four patients (27%), one patient had renal angiomyolipoma, and one had bilateral renal cancer. Different mutations of the\n                      <jats:italic>FLCN<\/jats:italic>\n                      gene were identified (mainly in exon 6), with two novel heterozygous variants: c.490delA p.(Arg164GlyTer13) and\u00a0c.40delC p.(His14ThrsfTer41).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      All analysed patients with BHDS presented with lung lesions and with less frequent skin and renal lesions than previously reported in other populations. In addition, more frequent mutations located in exon 6 were detected, and two novel\n                      <jats:italic>FLCN<\/jats:italic>\n                      gene mutations were identified.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-021-01931-0","type":"journal-article","created":{"date-parts":[[2021,7,6]],"date-time":"2021-07-06T06:05:06Z","timestamp":1625551506000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Novel folliculin gene mutations in Polish patients with Birt\u2013Hogg\u2013Dub\u00e9 syndrome"],"prefix":"10.1186","volume":"16","author":[{"given":"El\u017cbieta","family":"Radzikowska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urszula","family":"Lechowicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolanta","family":"Winek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucyna","family":"Opoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,7,6]]},"reference":[{"key":"1931_CR1","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/S1535-6108(02)00104-6","volume":"2","author":"ML Nickerson","year":"2002","unstructured":"Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, et al. 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All patients signed inform consent for genetic analysis and participation in this study.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent for publication was obtained from all participants.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors declare that they have not competing interests'.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"302"}}