{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:29:41Z","timestamp":1756384181874,"version":"3.41.2"},"reference-count":26,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:00:00Z","timestamp":1689120000000},"content-version":"vor","delay-in-days":192,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The authors present a rare case of Birt\u2013Hogg\u2013Dub\u00e9 (BHD) syndrome that presented primarily as an aesthetic case. Previous providers failed to accurately diagnose BHD, despite the patient\u2019s history of pneumothoraces. This female patient complained of numerous recurrent, small skin-colored growths on the face and neck and patchy hypopigmentation from the multiple treatments she had to undergo for her \u201cbumpy skin.\u201d She also suffered 4 spontaneous pneumothoraces. Following histopathologic and genetic testing, the patient was diagnosed with BHD. Computed tomography and ultrasound scans revealed multiple cysts in both lungs and an angiomyolipoma in both kidneys. This patient had undergone a variety of treatments to aesthetically remove and heal her skin bumps from several healthcare providers, all of whom had misdiagnosed her condition.<\/jats:p>\n               <jats:sec>\n                  <jats:title>Level of Evidence: 5<\/jats:title>\n                  <jats:p\/>\n               <\/jats:sec>","DOI":"10.1093\/asjof\/ojad064","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T20:48:11Z","timestamp":1689108491000},"source":"Crossref","is-referenced-by-count":2,"title":["Birt\u2013Hogg\u2013Dub\u00e9 Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas"],"prefix":"10.1093","volume":"5","author":[{"given":"Elina","family":"Theodorakopoulou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alec D","family":"McCarthy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zannis","family":"Almpanis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shino Bay","family":"Aguilera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,7,12]]},"reference":[{"issue":"12","key":"2023072716004779000_ojad064-B1","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1001\/archderm.1977.01640120042005","article-title":"Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons","volume":"113","author":"Birt","year":"1977","journal-title":"Arch Dermatol"},{"key":"2023072716004779000_ojad064-B2","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/j.gene.2017.09.044","article-title":"FLCN: the causative gene for Birt-Hogg-Dub\u00e9 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