{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:24:45Z","timestamp":1787772285959,"version":"build-2784847793"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>\n                    A\n                    <jats:sc>BSTRACT<\/jats:sc>\n                  <\/jats:title>\n                  <jats:p>Birt\u2013Hogg\u2013Dub\u00e9 syndrome (BHDS) is a rare hereditary autosomal dominant condition characterized by benign cutaneous lesions, lung cysts, and increased risk of spontaneous pneumothorax and renal cancer. We report a case of a young Indian boy with bilateral pneumothorax as the first symptom of BHDS. Detailed history examination and investigation showed multiple facial lesions; his computerized tomography was suggestive of renal angiomyolipoma, hepatic angiomyolipoma, pulmonary cyst with pneumothorax, and small bilateral subependymal soft tissue density lesion with calcification in the brain, all of which were collectively suggestive of BHDS. Identification of the above commonly presented clinical features as a syndrome is important for even a primary care physician so as to ensure the timely management and if required referral to a higher center.<\/jats:p>","DOI":"10.4103\/jfmpc.jfmpc_1451_23","type":"journal-article","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T06:02:49Z","timestamp":1716444169000},"page":"2164-2167","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Birt\u2013Hogg\u2013Dub\u00e9 syndrome presenting with bilateral pneumothorax, skin, kidney, liver, and brain lesions"],"prefix":"10.4103","volume":"13","author":[{"given":"Jyoti","family":"Bajpai","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine, Kasturba Chest Hospital, King George\u2019s Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubhajeet","family":"Roy","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences, King George\u2019s Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishal","family":"Zanwar","sequence":"additional","affiliation":[{"name":"Department of Interventional Pulmonology, Late Biharilal Ji Zanwar Memorial Hospital, Malkapur, Buldana, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surya","family":"Kant","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Kasturba Chest Hospital, King George\u2019s Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,5,24]]},"reference":[{"key":"R1-20240828","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10689-013-9657-4","article-title":"Diagnosis and management of BHD-associated kidney cancer","volume":"12","author":"Stamatakis","year":"2013","journal-title":"Fam Cancer"},{"key":"R3-20240828","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1016\/S1470-2045(09)70188-3","article-title":"Birt-Hogg-Dub\u00e9syndrome:Diagnosis and management","volume":"10","author":"Menko","year":"2009","journal-title":"Lancet Oncol"},{"key":"R4-20240828","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1038\/bjc.2011.463","article-title":"Renal cancer and pneumothorax risk in Birt-Hogg-Dub\u00e9syndrome;An analysis of 115 FLCN mutation carriers from 35 BHD families","volume":"105","author":"Houweling","year":"2011","journal-title":"Br J Cancer"},{"key":"R7-20240828","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1080\/13816810.2021.1961281","article-title":"Birt-Hogg-Dub\u00e9syndrome associated with chorioretinopathy and nyctalopia:A case report and review of the literature","volume":"44","author":"Konstantinou","year":"2023","journal-title":"Ophthalmic Genet"},{"key":"R8-20240828","doi-asserted-by":"crossref","first-page":"1289948","DOI":"10.3389\/fmed.2023.1289948","article-title":"Risk of pneumothorax in Birt-Hogg-Dub\u00e9syndrome during pregnancy and birth","volume":"10","author":"Steinlein","year":"2023","journal-title":"Front Med (Lausanne)"},{"key":"R9-20240828","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1186\/s13023-022-02326-5","article-title":"Genetic insight into Birt-Hogg-Dub\u00e9syndrome in Indian patients reveals novel mutations at FLCN","volume":"17","author":"Ray","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"R10-20240828","doi-asserted-by":"crossref","first-page":"5111","DOI":"10.2147\/IJGM.S359660","article-title":"Clinical and genetic comparison of Birt-Hogg-Dub\u00e9syndrome (Hornstein-Knickenberg Syndrome) in Chinese:A systemic review of reported cases","volume":"15","author":"Zhou","year":"2022","journal-title":"Int J Gen Med"},{"key":"R11-20240828","doi-asserted-by":"crossref","DOI":"10.1136\/thorax-2022-219738","article-title":"Diagnosis of cystic lung diseases:A position statement from the UK Cystic Lung Disease Rare Disease Collaborative Network","author":"Johnson","year":"2024","journal-title":"Thorax"}],"container-title":["Journal of Family Medicine and Primary Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/jfmpc.jfmpc_1451_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T18:35:43Z","timestamp":1787769343000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jfmpc.jfmpc_1451_23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.4103\/jfmpc.jfmpc_1451_23","relation":{},"ISSN":["2249-4863","2278-7135"],"issn-type":[{"value":"2249-4863","type":"print"},{"value":"2278-7135","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"2023-09-02","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-17","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}