{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T12:08:18Z","timestamp":1781525298372,"version":"3.54.1"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T00:00:00Z","timestamp":1623110400000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background\/Objective<\/jats:title><jats:p>Proteus syndrome, caused by a mosaic activating <jats:italic>AKT1<\/jats:italic> variant, typically presents in toddlers with progressive, asymmetric overgrowth of the skin and bones. We aimed to define the spectrum of dermatologic disease in individuals with genetically confirmed Proteus syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a retrospective review of records from dermatologic examinations of individuals evaluated at the NIH with a molecular diagnosis of Proteus syndrome. The types, prevalence, and localization of dermatologic findings were assessed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fifty\u2010one individuals (29 males, 22 females, mean age: 9\u00a0years) with clinical features of Proteus syndrome had the mosaic c.49G&gt;A, p.Glu17Lys <jats:italic>AKT1<\/jats:italic> variant. Fifty (98%) had at least one cutaneous feature constituting current clinical diagnostic criteria, including vascular malformations in 42 (82%), epidermal nevus in 41 (80%), volar cerebriform connective tissue nevi in 34 (67%), and adipose dysregulation in 30 (59%). Forty\u2010nine (96%) had at least one dermatologic finding not included within the diagnostic criteria, including confluent volar skin\u2010colored to hypopigmented papules or nodules (n\u00a0=\u00a033, 65%), papules or nodules on the digits or face (n\u00a0=\u00a027, 53%), and nonlinear epidermal nevi (n\u00a0=\u00a015, 29%). Other frequently observed features include nail changes (n\u00a0=\u00a028, 55%), hyperpigmented macules (n\u00a0=\u00a027, 53%), patchy dermal hypoplasia (n\u00a0=\u00a018, 35%), gingival\/oral mucosal overgrowth (n\u00a0=\u00a017, 33%), hypopigmented macules (n\u00a0=\u00a016, 31%), dental enamel changes (n\u00a0=\u00a09, 18%), acrochordons (n\u00a0=\u00a06, 12%), and lingual overgrowth (n\u00a0=\u00a04, 8%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The range of mucocutaneous features occurring in Proteus syndrome is broader than previously considered. These observations may assist in earlier diagnosis and management and provide novel insights regarding the pathogenesis of the condition.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.14624","type":"journal-article","created":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T02:30:38Z","timestamp":1623205838000},"page":"794-799","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Dermatologic findings in individuals with genetically confirmed Proteus syndrome"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4294-044X","authenticated-orcid":false,"given":"Deeti J.","family":"Pithadia","sequence":"first","affiliation":[{"name":"Department of Dermatology Uniformed Services University Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander M.","family":"Cartron","sequence":"additional","affiliation":[{"name":"Department of Dermatology Uniformed Services University Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie G.","family":"Biesecker","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute National Institutes of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5161-1974","authenticated-orcid":false,"given":"Thomas N.","family":"Darling","sequence":"additional","affiliation":[{"name":"Department of Dermatology Uniformed Services University Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,8]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"GeneReviews\u00ae","author":"Biesecker LG","year":"2012"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.140.8.947"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2020.01.078"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1104017"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.01.015"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2017.10.018"},{"key":"e_1_2_11_8_1","volume-title":"StatPearls","author":"Nicholson CL","year":"2021"},{"issue":"7","key":"e_1_2_11_9_1","first-page":"551","article-title":"Cerebriform plantar hyperplasia: ultrastructural study of two cases","volume":"10","author":"Winik BC","year":"2000","journal-title":"Eur J Dermatol"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12266"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<25::AID-AJMG6>3.0.CO;2-F"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560326"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1997.03890370083012"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2016.07.001"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2014.938"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.14636"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1977.01640120042005"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.4.1.1343"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14624","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14624","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14624","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T23:08:27Z","timestamp":1693350507000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14624"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,8]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1111\/pde.14624"],"URL":"https:\/\/doi.org\/10.1111\/pde.14624","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,8]]},"assertion":[{"value":"2021-06-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}