{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T17:13:59Z","timestamp":1789751639289,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T00:00:00Z","timestamp":1733702400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100017785","name":"Pediatric Dermatology Research Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017785","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Many vascular anomalies harbor postzygotic somatic variants in <jats:italic>GNAQ<\/jats:italic> and <jats:italic>GNA11<\/jats:italic>; however, the phenotype of specific G\u2010protein variants has not been well described. We report the clinical characteristics of 17 patients with a <jats:italic>GNA11<\/jats:italic> R183C variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high\u2010depth next generation sequencing. Data include vascular anomaly features, imaging reports, and extracutaneous manifestations of the <jats:italic>GNA11<\/jats:italic> R183C variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 17 subjects (median age 18\u2009years [range 6\u201367]) with somatic <jats:italic>GNA11<\/jats:italic> R183C variant. All patients had vascular lesions of the skin that presented as pink\u2010to\u2010red in children and deeper red in adults. Most lesions were large, poorly demarcated, and reticulated patches that were often bilaterally distributed. Nevus anemicus was observed in 53% (<jats:italic>N<\/jats:italic>\u2009=\u20099) and dermal melanocytosis in 13.3% (<jats:italic>N<\/jats:italic>\u2009=\u20092) of individuals. 82% (<jats:italic>N<\/jats:italic>\u2009=\u200914) of patients had limb growth discrepancies, and 1 patient had marked thoracic hypoplasia. 47% (<jats:italic>N<\/jats:italic>\u2009=\u20098) of patients had facial involvement, and 41% (<jats:italic>N<\/jats:italic>\u2009=\u20097) had forehead involvement. One patient experienced seizures due to right hemispheric leptomeningeal angiomatosis consistent with Sturge\u2013Weber syndrome. Other findings included glaucoma (29%, <jats:italic>N<\/jats:italic>\u2009=\u20095) and psychomotor delay (29%, <jats:italic>N<\/jats:italic>\u2009=\u20095).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings contribute to our understanding of the clinical spectrum of <jats:italic>GNA11<\/jats:italic> R183C capillary malformations\u00a0(CMs); patients characteristically present with extensive, bilateral, poorly demarcated, pink\u2010to\u2010red CMs associated with\u00a0nevus anemicus. Glaucoma and growth discrepancies (overgrowth or undergrowth) are common. Leptomeningeal angiomatosis and developmental delay can occur, appearing potentially less prevalent and severe than <jats:italic>GNAQ<\/jats:italic>\u2010associated disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.15802","type":"journal-article","created":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T05:54:33Z","timestamp":1733810073000},"page":"475-480","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic Spectrum of <i>GNA11<\/i><scp>R183C<\/scp> Mosaicism"],"prefix":"10.1111","volume":"42","author":[{"given":"Donglin","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Dermatology, School of Medicine and Public Health University of Wisconsin  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Fernando","family":"S\u00e1nchez\u2010Espino","sequence":"additional","affiliation":[{"name":"Dermatology Department Stollery Children's Hospital  Edmonton Alberta Canada"},{"name":"Pediatrics Department, Faculty of Medicine &amp; Dentistry University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Ivars","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2136-5661","authenticated-orcid":false,"given":"Elena","family":"Pope","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Temerty Faculty of Medicine, The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy J.","family":"Nopper","sequence":"additional","affiliation":[{"name":"Division of Dermatology Children's Mercy  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa M.","family":"Arkin","sequence":"additional","affiliation":[{"name":"Department of Dermatology, School of Medicine and Public Health University of Wisconsin  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megha M.","family":"Tollefson","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pediatrics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia E.","family":"Lavarino","sequence":"additional","affiliation":[{"name":"Molecular Oncology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Muldowney","sequence":"additional","affiliation":[{"name":"Department of Dermatology, School of Medicine and Public Health University of Wisconsin  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nagore Gen\u00e9","family":"Olaciregui","sequence":"additional","affiliation":[{"name":"Molecular Oncology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Paco","sequence":"additional","affiliation":[{"name":"Molecular Oncology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth A.","family":"Drolet","sequence":"additional","affiliation":[{"name":"Department of Dermatology, School of Medicine and Public Health University of Wisconsin  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eul\u00e0lia","family":"Baselga","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,9]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2006.05.066"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.87.3.323"},{"issue":"1","key":"e_1_2_11_4_1","first-page":"48","article-title":"Facial Port\u2010Wine Stains and Sturge\u2013Weber Syndrome","volume":"76","author":"Enjolras O.","year":"1985","journal-title":"Pediatrics"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1213507"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10456\u2010016\u20109538\u20101"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15452"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.663272"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2020.03.978"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.10.033"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2023.08.028"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.21323"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2023.09.008"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104472"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2022.02.006"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1300253"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2019.10.019"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2019.08.455"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2015.11.027"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15103"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.009"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1000584"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.142.8.994"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.11.009"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2020.05.017"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15802","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T06:46:04Z","timestamp":1751525164000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15802"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,9]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1111\/pde.15802"],"URL":"https:\/\/doi.org\/10.1111\/pde.15802","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,9]]},"assertion":[{"value":"2024-06-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}