{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:41:35Z","timestamp":1791013295946,"version":"4.1.0"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T00:00:00Z","timestamp":1746662400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Proteus syndrome (PS) is a rare, highly polymorphous and complex disorder characterized by assymetric and\/or disproportional overgrowth of limbs, hamartomas and vascular deformations. Typically, the first signs of PS appear between 6 and 18 months of age, are subtle and might be overlooked. We report a case of a 17 year old boy which was first diagnozed with PS after left limb amputation in 2021 (age of 14), though retrospectively the first signs of left hand enlargement appeared at 18 months. At the age of 3 years vascular surgery of venous malformation on his left leg was performed, molecular genetic tests from blood revealed no abnormalities. At the time Klipper-Trenaunay syndrome was diagnosed according to clinical criteria. In 2021 whole exome sequencing (WES) confirmed the diagnosis of PS after the test of affected tissues after amputation. We review the role of multidisciplinary approach implicating different physicians, role of radiologist with the multiple findings in this rare pathology with high variability of clinical presentation. Considering the complications and early mortality (up to 27 years old) observed in patients we emphasizet he significance of early suspicion and diagnosis of PS and the need for symptomatic multidisciplinary team follow-up which aims to minimize the degree of disability, prophylaxis of thrombembolic events and improve quality of life.<\/jats:p>","DOI":"10.3389\/fped.2025.1568806","type":"journal-article","created":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T07:37:31Z","timestamp":1746689851000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Proteus syndrome with late diagnosis confirmation: a case report"],"prefix":"10.3389","volume":"13","author":[{"given":"Ilona","family":"Dockien\u0117","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martynas","family":"\u010ciuplinskas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rimantas","family":"Zagorskis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Egl\u0117","family":"Kontrimavi\u010di\u016bt\u0117","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,5,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"202","DOI":"10.4103\/0971-6866.116117","article-title":"Proteus syndrome: clinical profile of six patients and review of literature","volume":"19","author":"Angurana","year":"2013","journal-title":"Indian J Hum Genet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1590\/abd1806-4841.20174496","article-title":"Proteus syndrome","volume":"92","author":"Rocha","year":"2017","journal-title":"An Bras Dermatol"},{"key":"B3","article-title":"Proteus syndrome","year":""},{"key":"B4","doi-asserted-by":"publisher","first-page":"e138","DOI":"10.1097\/BPO.0000000000001121","article-title":"Orthopaedic management of leg-length discrepancy in Proteus syndrome: a case series","volume":"38","author":"Crenshaw","year":"2018","journal-title":"J Pediatr Orthop"},{"key":"B5","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1056\/NEJMoa1104017","article-title":"A mosaic activating mutation in AKT1 associated with the Proteus syndrome","volume":"365","author":"Lindhurst","year":"2011","journal-title":"N Engl J Med"},{"key":"B6","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1002\/ajmg.c.31531","article-title":"Somatic overgrowth disorders of the PI3K\/AKT\/mTOR pathway & therapeutic strategies","volume":"172","author":"Keppler-Noreuil","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"B7","doi-asserted-by":"publisher","first-page":"2716","DOI":"10.3892\/etm.2020.8986","article-title":"Proteus syndrome of the foot: a case report and literature review","volume":"20","author":"He","year":"2020","journal-title":"Exp Ther Med"},{"key":"B8","doi-asserted-by":"publisher","first-page":"e63968","DOI":"10.1002\/ajmg.a.63968","article-title":"Prenatal diagnosis of Proteus syndrome: about a case","volume":"197","author":"Giovannangeli","year":"2025","journal-title":"Am J Med Genet A"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1583","DOI":"10.21873\/invivo.12415","article-title":"Phenotype and surgical treatment in a case of Proteus syndrome with craniofacial and oral findings","volume":"35","author":"Friedrich","year":"2021","journal-title":"In Vivo"},{"key":"B10","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1016\/j.jclinane.2015.03.038","article-title":"Proteus syndrome: what the anesthetist should know","volume":"27","author":"Sethi","year":"2015","journal-title":"J Clin Anesth"},{"key":"B11","article-title":"Proteus syndrome: what the anesthetist should know - ScienceDirect","author":"Sethi","year":""},{"key":"B12","article-title":"Anesthesia for Proteus syndrome - Cekmen - 2004 - Pediatric Anesthesia - Wiley Online Library","author":"Cekmen","year":""},{"key":"B13","article-title":"Radiologic manifestations of Proteus syndrome | RadioGraphics","author":"Jamis-Dow","year":""},{"key":"B14","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1186\/s12881-020-0949-x","article-title":"A case report of Proteus syndrome (PS)","volume":"21","author":"Zeng","year":"2020","journal-title":"BMC Med Genet"},{"key":"B15","doi-asserted-by":"publisher","first-page":"a004549","DOI":"10.1101\/mcs.a004549","article-title":"Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)","volume":"6","author":"Biesecker","year":"2020","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"B16","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/ncponc1112","article-title":"Rapamycin treatment for a child with germline PTEN mutation","volume":"5","author":"Marsh","year":"2008","journal-title":"Nat Clin Pract Oncol"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2025.1568806\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T07:37:31Z","timestamp":1746689851000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2025.1568806\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,8]]},"references-count":16,"alternative-id":["10.3389\/fped.2025.1568806"],"URL":"https:\/\/doi.org\/10.3389\/fped.2025.1568806","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,8]]},"article-number":"1568806"}}