{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:50:27Z","timestamp":1788306627947,"version":"build-2803163510"},"reference-count":38,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,2,20]],"date-time":"2019-02-20T00:00:00Z","timestamp":1550620800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Bardet\u2010Biedl syndrome (<jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content>) is a rare, pleiotropic syndrome and member of a diverse group of disorders known as ciliopathies. Improved understanding of dermatoses in <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> will further understanding of the syndrome and will help define the role of dermatologists in providing care for patients with <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content>. The purpose of this study was to describe the cutaneous phenotype of <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> in patients attending a large, multispecialty <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> clinic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>All patients attending the multispecialty <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> Clinic at the Marshfield Medical Center over a 12\u2010month period were invited to participate. Complete cutaneous examinations were performed by a board\u2010certified dermatologist, and comprehensive physical examinations were performed by clinic physicians. Molecular genetic results were obtained when available. Comprehensive laboratory studies were performed in each patient including fasting blood sugar and thyroid and renal function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010one individuals ranging in age between 2 and 69 years (median age, 12 years) participated in the study. Cutaneous findings were present in all subjects. Keratosis pilaris was present in 80.6% of subjects, and seborrheic dermatitis was present in 19.3%. Obesity, a cardinal feature of <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content>, was present in the majority of subjects (90.3%) and was accompanied by known obesity\u2010related dermatologic disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Cutaneous disorders are common in <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> and suggest disturbance of keratinization and keratinocyte function as well as systemic consequences of <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> on skin health. Increased prevalence of skin barrier dysfunction in this ciliopathy demonstrates the importance of dermatologist contribution to health care in <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.14412","type":"journal-article","created":{"date-parts":[[2019,2,21]],"date-time":"2019-02-21T07:24:38Z","timestamp":1550733878000},"page":"1160-1164","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Cutaneous findings in Bardet\u2010Biedl syndrome"],"prefix":"10.1111","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8007-3362","authenticated-orcid":false,"given":"Robert M.","family":"Haws","sequence":"first","affiliation":[{"name":"Marshfield Medical Center Marshfield WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas J.","family":"McIntee","sequence":"additional","affiliation":[{"name":"Marshfield Medical Center Marshfield WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clayton B.","family":"Green","sequence":"additional","affiliation":[{"name":"Marshfield Medical Center Marshfield WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.060210"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.279"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4843"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a028191"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1010172"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000247369"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000228537"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2011.04917.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-3083.2003.00623.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI37041"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.115"},{"key":"e_1_2_5_13_1","first-page":"1","article-title":"Keeping an eye on Bardet\u2010Biedl syndrome: a comprehensive review of the role of Bardet\u2010Biedl syndrome genes in the eye","volume":"5","author":"Weihbrecht K","year":"2017","journal-title":"Med Res Arch"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.6.437"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.5070\/D31GV4N3K8"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.05.030"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201508082"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2018.00008"},{"key":"e_1_2_5_19_1","unstructured":"Centers for Disease Control and Prevention.CDC Growth Charts 2011. 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