{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:52:53Z","timestamp":1747187573901,"version":"3.40.5"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T00:00:00Z","timestamp":1652659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background\/Objectives<\/jats:title><jats:p>Basal cell nevus syndrome (BCNS) is an autosomal dominant skin cancer predisposition syndrome associated with abnormal mineral metabolism, a risk factor for urinary stone disease (USD). However, no research investigating the association between BCNS and USD or other manifestations of abnormal mineral metabolism has been conducted. The objective of this study is to investigate the association between BCNS and conditions associated with disordered mineral metabolism including USD, hypothyroidism, and osteoporosis and compare them to prevalence in the general population to elucidate potential unknown manifestations of the condition.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This retrospective study examined medical records of adult and pediatric patients with confirmed BCNS from the Mayo Clinic database from 1 January 1995 to 12 January 2020. Records were surveyed for evidence of USD and other comorbidities potentially related to BCNS. The studied cohort included 100 adult patients and 5 pediatric patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 105 patients were included in this analysis, 10 of whom experienced confirmed USD, representing a prevalence of 10%. Six adult patients were identified with a diagnosis of osteoporosis, representing a prevalence of 6%. Thirteen adult patients were identified with a diagnosis of hypothyroidism, representing a prevalence of 13%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study identified a prevalence of USD in BCNS patients comparable to estimates of national prevalence, indicating that known abnormalities in mineral metabolism likely do not increase the incidence of USD in BCNS patients. Additional findings included increased prevalence of hypothyroidism and decreased prevalence of osteoporosis in the BCNS cohort compared to national averages.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.15022","type":"journal-article","created":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T07:59:04Z","timestamp":1652687944000},"page":"713-717","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["An investigation of metabolic disturbances, including urinary stone disease, hypothyroidism, and osteoporosis in basal cell nevus syndrome"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4062-1149","authenticated-orcid":false,"given":"Karl M.","family":"Schlaht","sequence":"first","affiliation":[{"name":"Mayo Clinic Alix School of Medicine  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4869-434X","authenticated-orcid":false,"given":"David J.","family":"Sas","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6819-6044","authenticated-orcid":false,"given":"Dawn Marie R.","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Dermatology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5321-493X","authenticated-orcid":false,"given":"Jennifer L.","family":"Hand","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Dermatology Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Clinical Genomics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,5,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/dsu.12241"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14206"},{"issue":"4","key":"e_1_2_9_4_1","first-page":"1783","article-title":"Diagnosis and treatment of patients with nevoid basal cell carcinoma syndrome [Gorlin\u2010Goltz syndrome (GGS)]","volume":"27","author":"Friedrich RE","year":"2007","journal-title":"Anticancer Res"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1964.01600010044011"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20103\u201032"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.02.0046"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.13251215"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.12993"},{"issue":"10","key":"e_1_2_9_10_1","first-page":"4265","article-title":"Atlanto\u2010occipital ligament calcification: a novel sign in nevoid basal cell carcinoma syndrome","volume":"30","author":"Leonardi R","year":"2010","journal-title":"Anticancer Res"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741\u20104520.2008.00212.x"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/hed.22000"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.4103\/2230\u20108210.83339"},{"key":"e_1_2_9_14_1","doi-asserted-by":"crossref","unstructured":"StiermanB AffulJ CarrollMD et al. National Health and Nutrition Examination Survey 2017\u2013March 2020 prepandemic data files\u2014Development of files and prevalence estimates for selected health outcomes. National Health Statistics Reports; no 158.National Center for Health Statistics;2021. doi:10.15620\/cdc:106273","DOI":"10.15620\/cdc:106273"},{"key":"e_1_2_9_15_1","first-page":"1","article-title":"Total and high\u2010density lipoprotein cholesterol in adults: United States, 2015\u20102016","volume":"290","author":"Carroll MD","year":"2017","journal-title":"NCHS Data Brief"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamainternmed.2021.2686"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2012.03.052"},{"key":"e_1_2_9_18_1","first-page":"1","article-title":"Osteoporosis or low bone mass in older adults: United States, 2017\u20132018","volume":"405","author":"Sarafrazi N","year":"2021","journal-title":"NCHS Data Brief"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2012.09.023"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/pir.20\u20108\u2010280"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2815"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2010.247"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2011.05.002"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0025\u20106196(12)60694\u20106"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.2174\/1874192401105010076"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem\u201046\u20101\u201055"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15022","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.15022","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15022","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T07:36:41Z","timestamp":1692689801000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15022"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,16]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1111\/pde.15022"],"URL":"https:\/\/doi.org\/10.1111\/pde.15022","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2022,5,16]]},"assertion":[{"value":"2022-01-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}