{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T05:08:18Z","timestamp":1772168898383,"version":"3.50.1"},"reference-count":7,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2018,2,26]],"date-time":"2018-02-26T00:00:00Z","timestamp":1519603200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>\n                    Proteus syndrome (PS) is a postnatal mosaic overgrowth disorder, progressive and disfiguring. It is clinically diagnosed according to the criteria reported by Biesecker\n                    <ns4:italic>et al<\/ns4:italic>\n                    .\n                  <\/ns4:p>\n                  <ns4:p>We describe the case of a 49-year-old woman who presented with a 10-year history of pauci-symptomatic infiltrating plaque lesions on the sole and lateral margin of the left foot, which had been diagnosed as a keloid. The patient had a positive history for advanced melanoma and a series of subtle clinical signs, such as asymmetric face, scoliosis, multiple lipomas on the trunk, linear verrucous epidermal nevi, and hyperpigmented macules with a mosaic distribution. Even if the clinical presentation was elusive, she had enough criteria to be diagnosed with PS.<\/ns4:p>\n                  <ns4:p>This case describes the first evidence, to the best of our knowledge, of pauci-symptomatic PS in adulthood, reports its rare association with advanced melanoma, and illustrates the importance of even minor cutaneous clinical signs, especially when atypical, in formulating the diagnosis of a complex cutaneous condition such as this.<\/ns4:p>","DOI":"10.12688\/f1000research.13993.1","type":"journal-article","created":{"date-parts":[[2018,2,26]],"date-time":"2018-02-26T10:50:19Z","timestamp":1519642219000},"page":"228","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: \u201cIncognito\u201d proteus syndrome"],"prefix":"10.12688","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2203-0353","authenticated-orcid":false,"given":"Michelangelo","family":"Vestita","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Filoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Arpaia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazia","family":"Ettorre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Bonamonte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2560","published-online":{"date-parts":[[2018,2,26]]},"reference":[{"key":"ref-1","first-page":"291-296","article-title":"A newly recognized hamartomatous syndrome.","volume":"15","author":"M Cohen","year":"1979","journal-title":"Birth Defects."},{"key":"ref-2","doi-asserted-by":"publisher","first-page":"947-953","DOI":"10.1001\/archderm.140.8.947","article-title":"Cutaneous manifestations of Proteus syndrome. Correlations with general clinical severity.","volume":"140","author":"D Nguyen","year":"2004","journal-title":"Arch Dermatol."},{"key":"ref-3","doi-asserted-by":"publisher","first-page":"1422-1432","DOI":"10.1002\/ajmg.a.37612","article-title":"Lack of mutation-histopathology correlation in a patient with Proteus syndrome.","volume":"170","author":"M Doucet","year":"2016","journal-title":"Am J Med Genet A."},{"key":"ref-4","doi-asserted-by":"publisher","first-page":"e306-310","DOI":"10.1111\/pde.12900","article-title":"Early Recognition of Proteus Syndrome.","volume":"33","author":"D Rodenbeck","year":"2016","journal-title":"Pediatr Dermatol."},{"key":"ref-5","article-title":"Proteus Syndrome","author":"L Biesecker","year":"2012"},{"key":"ref-6","doi-asserted-by":"crossref","first-page":"389-395","DOI":"10.1002\/(SICI)1096-8628(19990611)84:5<389::AID-AJMG1>3.0.CO;2-O","article-title":"Proteus Syndrome: diagnostic criteria, differential diagnosis and patient evaluation.","volume":"84","author":"L Biesecker","year":"1999","journal-title":"Am J Med Genet."},{"key":"ref-7","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1186\/1479-5876-8-115","article-title":"High activity of sequential low dose chemo-modulating Temozolomide in combination with Fotemustine in metastatic melanoma. A feasibility study.","volume":"8","author":"M Guida","year":"2010","journal-title":"J Transl Med."}],"container-title":["F1000Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/f1000research.com\/articles\/7-228\/v1\/pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/7-228\/v1\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/7-228\/v1\/iparadigms","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,14]],"date-time":"2019-01-14T04:55:10Z","timestamp":1547441710000},"score":1,"resource":{"primary":{"URL":"https:\/\/f1000research.com\/articles\/7-228\/v1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,26]]},"references-count":7,"URL":"https:\/\/doi.org\/10.12688\/f1000research.13993.1","relation":{"has-review":[{"id-type":"doi","id":"10.5256\/f1000research.15209.r31219","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.15209.r31217","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.15209.r31217","asserted-by":"object"},{"id-type":"doi","id":"10.5256\/f1000research.15209.r31219","asserted-by":"object"}]},"ISSN":["2046-1402"],"issn-type":[{"value":"2046-1402","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,26]]},"assertion":[{"value":"Indexed","URL":"https:\/\/f1000research.com\/articles\/7-228\/v1#article-reports","order":0,"name":"referee-status","label":"Referee status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.5256\/f1000research.15209.r31217, Marco Marcasciano, Unit of Plastic, Reconstructive and Aesthetic Surgery, Sapienza University of Rome, Rome, Italy, 28 Feb 2018, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/7-228\/v1#referee-response-31217","order":0,"name":"referee-response-31217","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"<b>Leslie Biesecker<\/b>; \n<i>Posted: 13 Jan 2019<\/i>; It is always helpful to see interesting clinical reports. A few things that are puzzling about this report is that the patient does not appear to meet the clinical criteria for this condition. It should be noted that the authors cited our 1999 criteria from AJMG, although those were superseded&nbsp; by the criteria published in 2006 (PMID&nbsp;16883308). Irrespective of that suboptimal citation, the patient probably meets the general criteria but does not meet specific criterion A because while she probably has a connective tissue nevus, it is not a cerebriform connective tissue nevus (see photos in PMID16883308 for examples that do have this attribute), she does not have two criteria from specific category B nor does she have three criteria from category C. Therefore, I would conclude that clinically, this patient has a segmental (or mosaic) overgrowth disorder and not necessarily Proteus syndrome.&nbsp; The second puzzling aspect of this report is that the molecular etiology of Proteus syndrome was elucidated eight years ago (PMID&nbsp;21793738), yet this test was not performed on this patient. While there can be valid reasons for not performing such testing in a clinical context, to claim a patient has a diagnosis in a scientific publication without confirming that diagnosis molecularly is problematic. Should the authors be unable to access clinical testing for this patient, we would be willing to provide that free of charge should this lady be willing to enroll in our research study.&nbsp; As we have documented, diagnostic confusion between Proteus syndrome and related overgrowth disorders is a common problem (PMID&nbsp;15372514). PIK3CA-related overgrowth spectrum (PMID&nbsp;25557259) is probably 100X more common than is Proteus syndrome, and inexperienced clinicians frequently confuse these entities.&nbsp; Finally, these authors claim that &quot;This case describes the first evidence, to the best of our knowledge, of pauci-symptomatic PS in adulthood...&quot; I would suggest that the authors review PMID&nbsp;24850616 for a prior example of just that.&nbsp; Again, the authors are to be congratulated for identifying this interesting patient, though the lessons learned may be quite distinct from that which they assert.&nbsp;","URL":"https:\/\/f1000research.com\/articles\/7-228\/v1#referee-comment-4356","order":1,"name":"referee-comment-4356","label":"Referee Comment","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.15209.r31219, Giuseppe Micali, Dermatology Clinic, University of Catania, Catania, Italy, 08 Mar 2018, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/7-228\/v1#referee-response-31219","order":2,"name":"referee-response-31219","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"The author(s) declared that no grants were involved in supporting this work","order":3,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}