{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T10:03:26Z","timestamp":1790330606963,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:00:00Z","timestamp":1789171200000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Skin Research and Technology"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Birt\u2010Hogg\u2010Dub\u00e9 syndrome (BHDS) is a rare genetic tumor syndrome characterized by cutaneous fibrofolliculoma and trichodiscomas, lung bullae with an elevated risk of spontaneous pneumothorax and renal cell cancer.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Due to rareness of the disease, clinical symptoms and cutaneous manifestations are often misjudged, resulting in delayed medical diagnosis and considerable health risks for patients and their families. Accurate discrimination of fibrofolliculomas from other non\u2010malignant skin tumors can be crucial for early diagnosis and appropriate management of BHDS. In addition, they may clinically overlap with adnexal or follicular papules seen in other rare genodermatoses, including facial angiofibromas in tuberous sclerosis complex, trichilemmomas in Cowden syndrome\/PTEN hamartoma tumor syndrome, and trichoepitheliomas in CYLD cutaneous syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      In this study, skin lesions from 15 BHDS patients with genetic confirmed disease\u2010causing variants in\n                      <jats:italic>FLCN<\/jats:italic>\n                      underwent reflectance confocal microscopy (RCM) and Line\u2010Field Confocal Optical Coherence Tomography (LC\u2010OCT) to systematically analyse the morphologic and microstructural features of fibrofolliculomas.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In RCM a dilated follicular unit was seen in 12\/15 cases (80%), while in LC\u2010OCT this feature was seen in 13\/15 (87%). The characteristic round, onion\u2010like shaped hyperreflective structures with a well\u2010demarcated perifollicular halo, corresponding to the histopathological features of branching chords and strands of epithelial cells was seen in all cases (RCM and LC\u2010OCT 100%), aiding clinicians in identifying fibrofolliculomas.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Advanced imaging techniques provide a non\u2010invasive approach for early diagnosis of fibrofolliculomas. Therefore, RCM and especially LC\u2010OCT may be promising tools for enhancing the diagnostic precision and sufficient clinical management of Birt\u2010Hogg\u2010Dub\u00e9 syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/srt.70381","type":"journal-article","created":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T09:28:56Z","timestamp":1789205336000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Advanced Imaging Techniques for Early in\u2010Vivo Discrimination of Fibrofolliculomas in Birt\u2010Hogg\u2010Dub\u00e9 Syndrome"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4935-9877","authenticated-orcid":false,"given":"Maximilian","family":"Deu\u00dfing","sequence":"first","affiliation":[{"name":"Department of Dermatology and Allergy LMU University Hospital, LMU Munich  Munich Germany"},{"name":"Department of Dermatology and Allergy Munich Municipal Hospital  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1002-8133","authenticated-orcid":false,"given":"Daniela","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy LMU University Hospital, LMU Munich  Munich Germany"},{"name":"Department of Dermatology and Allergy Munich Municipal Hospital  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pontus","family":"Mertsch","sequence":"additional","affiliation":[{"name":"Department of Medicine V University Hospital, LMU Munich  M\u00fcnchen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Gust","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Flaig","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9113-9643","authenticated-orcid":false,"given":"Marlene","family":"Reithmair","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7917-7129","authenticated-orcid":false,"given":"Julia","family":"Hoefele","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke C.","family":"Sattler","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy LMU University Hospital, LMU Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,12]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00582068"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40257-017-0307-8"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-024-01671-2"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0264056"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.906"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241512418"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2022-109104"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1535-6108(02)00104-6"},{"key":"e_1_2_11_10_1","unstructured":"E. 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K.Steinlein \u201cBirt\u2010Hogg\u2010Dub\u00e9 Syndrome \u201d in:AdamMP BickS MirzaaGM WallaceSE AmemiyaA eds.GeneReviews\u00ae.Seattle (WA): University of Washington(2006)."},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.5021\/ad.2022.34.1.66"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2022.101572"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00105-017-4013-5"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0000000000002064"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13499"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1117\/1.JBO.23.10.106007"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-1097.2008.00443.x"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.5826\/dpc.1602a6753"}],"container-title":["Skin Research and Technology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/srt.70381","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/srt.70381","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/srt.70381","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T09:28:01Z","timestamp":1790328481000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/srt.70381"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":17,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1111\/srt.70381"],"URL":"https:\/\/doi.org\/10.1111\/srt.70381","archive":["Portico"],"relation":{},"ISSN":["0909-752X","1600-0846"],"issn-type":[{"value":"0909-752X","type":"print"},{"value":"1600-0846","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"2025-12-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70381"}}