{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T16:25:47Z","timestamp":1768926347846,"version":"3.49.0"},"reference-count":12,"publisher":"Elsevier BV","issue":"04","license":[{"start":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T00:00:00Z","timestamp":1701043200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Glob Med Genet"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In the clinical practice, it is not common for pediatricians to visit children with overgrowth phenotype. When it happens, it is important to focus on the age of manifestations and research the pathogenic causes using appropriate genetic test. Cowden syndrome is one of these rare causes; it is an autosomal dominant genodermatosis characterized by multiple hamartomas of ectodermal, mesodermal, and endodermal origin. It is caused by loss of function mutations in the phosphatase and tensin homolog (PTEN) gene located on chromosome 10q23.1 Loss of function of the PTEN gene contributes to overgrowth and risk for a variety of cancers including breast, thyroid, endometrium, skin, kidneys, and colon. The early diagnosis of Cowden disease allows a careful monitoring of the patients who are facing the risk of cancer transformation, which is the principal complication of the condition.<\/jats:p>","DOI":"10.1055\/s-0043-1777275","type":"journal-article","created":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T00:00:42Z","timestamp":1701129642000},"page":"345-347","source":"Crossref","is-referenced-by-count":1,"title":["Early is Better: Report of a Cowden Syndrome"],"prefix":"10.1016","volume":"10","author":[{"given":"A.","family":"Di Nora","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Pellino","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Di Mari","sequence":"additional","affiliation":[{"name":"Department of Radiology, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Scarlata","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Greco","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Pavone","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","published-online":{"date-parts":[[2023,11,27]]},"reference":[{"key":"ref1","volume-title":"Cowden disease","author":"C Garofola","year":"2023"},{"issue":"05","key":"ref2","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1002\/cncr.29106","article-title":"Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study","volume":"121","author":"H Mahdi","year":"2015","journal-title":"Cancer"},{"issue":"02","key":"ref3","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1158\/1078-0432.CCR-11-2283","article-title":"Lifetime cancer risks in individuals with germline PTEN mutations","volume":"18","author":"M H Tan","year":"2012","journal-title":"Clin Cancer Res"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"353","DOI":"10.3389\/fgene.2018.00353","article-title":"Early onset multiple primary tumors in atypical presentation of Cowden syndrome identified by whole-exome-sequencing","volume":"9","author":"M Cavaill\u00e9","year":"2018","journal-title":"Front Genet"},{"issue":"11","key":"ref5","doi-asserted-by":"crossref","first-page":"a036780","DOI":"10.1101\/cshperspect.a036780","article-title":"PTEN in autism and neurodevelopmental disorders","volume":"9","author":"S Rademacher","year":"2019","journal-title":"Cold Spring Harb Perspect Med"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"338","DOI":"10.3389\/fendo.2018.00338","article-title":"PTEN: tumor suppressor and metabolic regulator","volume":"9","author":"C Y Chen","year":"2018","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"02","key":"ref7","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.canlet.2012.01.003","article-title":"PTEN in DNA damage repair","volume":"319","author":"M Ming","year":"2012","journal-title":"Cancer Lett"},{"issue":"05","key":"ref8","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1016\/j.cmet.2014.03.023","article-title":"PTEN\u03b1, a PTEN isoform translated through alternative initiation, regulates mitochondrial function and energy metabolism","volume":"19","author":"H Liang","year":"2014","journal-title":"Cell Metab"},{"issue":"03","key":"ref9","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1212\/CPJ.0000000000000463","article-title":"Neuroimaging abnormalities in patients with Cowden syndrome: retrospective single-center study","volume":"8","author":"R Dhamija","year":"2018","journal-title":"Neurol Clin Pract"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"574857","DOI":"10.3389\/fped.2020.574857","article-title":"Overgrowth syndromes-evaluation, diagnosis, and management","volume":"8","author":"J Manor","year":"2020","journal-title":"Front Pediatr"},{"issue":"04","key":"ref11","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.cppeds.2015.02.005","article-title":"Generalized overgrowth syndromes with prenatal onset","volume":"45","author":"N Yachelevich","year":"2015","journal-title":"Curr Probl Pediatr Adolesc Health Care"},{"issue":"02","key":"ref13","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.clinimag.2019.12.006","article-title":"Imaging of PTEN-related abnormalities in the central nervous system","volume":"60","author":"R Dhamija","year":"2020","journal-title":"Clin Imaging"}],"container-title":["Global Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0043-1777275.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T15:23:15Z","timestamp":1736436195000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0043-1777275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,27]]},"references-count":12,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2023,10,10]]},"published-print":{"date-parts":[[2023,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0043-1777275","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2699-9404"],"issn-type":[{"value":"2699-9404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,27]]}}}