{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:07:06Z","timestamp":1792084026740,"version":"4.4.0"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,5,22]],"date-time":"2021-05-22T00:00:00Z","timestamp":1621641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005897","name":"Soci\u00e9t\u00e9 Fran\u00e7aise de Dermatologie et de Pathologie Sexuellement Transmissible","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005897","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Postzygotic mutations in\n                      <jats:italic>FGFR2<\/jats:italic>\n                      have been identified in mosaic forms of acne, keratinocytic epidermal nevi, nevoid acanthosis nigricans \/ rounded and velvety epidermal nevus and in two fetuses with papillomatous pedunculated sebaceous nevus (PPSN).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To determine the clinical and genetic characteristics of children with cerebriform, papillomatous and pedunculated variants of sebaceous nevi.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Infants diagnosed with sebaceous nevi characterized by a cerebriform, papillomatous and\/or pedunculated morphology over a 10\u2010year period (2010\u20132019) at three paediatric dermatology centres in Switzerland and France were included in this case series. Clinical and histological characteristics were assessed. Next\u2010generation sequencing was used to assess for\n                      <jats:italic>FGFR2<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All nevi were located on the head, with a rounded or linear shape and a typical cerebriform, sometimes papillomatous and pedunculated, surface. No associated extracutaneous anomalies were found. Nevi harboured postzygotic mutations in the transmembrane domain of\n                      <jats:italic>FGFR2<\/jats:italic>\n                      in 6\/8 children (75%), either the known specific p.(Cys382Arg) mutation in 5 cases, or a novel mutation, p.(Val395Asp), in one.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We found an exquisite genotype\u2013phenotype correlation in these rare nevi, with specific postzygotic mutations in the transmembrane domain of\n                      <jats:italic>FGFR2<\/jats:italic>\n                      . As not all lesions were truly papillomatous and pedunculated, the term cerebriform sebaceous nevus (CSN) appears more suitable than PPSN to describe this entity. The cerebriform pattern of CSN is reminiscent of cutis gyrata, as seen in Beare\u2013Stevenson syndrome, which is caused by closely related germline\n                      <jats:italic>FGFR2<\/jats:italic>\n                      mutations. While clinically impressive, CSN seem to carry a good prognosis and a low risk for extracutaneous associations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jdv.17319","type":"journal-article","created":{"date-parts":[[2021,4,30]],"date-time":"2021-04-30T14:57:16Z","timestamp":1619794636000},"page":"2085-2090","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic\n                    <i>FGFR2<\/i>\n                    mutations"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7160-3958","authenticated-orcid":false,"given":"M.","family":"Theiler","sequence":"first","affiliation":[{"name":"Pediatric Skin Center Department of Dermatology University Children\u2019s Hospital Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8696-8164","authenticated-orcid":false,"given":"L.","family":"Weibel","sequence":"additional","affiliation":[{"name":"Pediatric Skin Center Department of Dermatology University Children\u2019s Hospital Zurich Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7817-229X","authenticated-orcid":false,"given":"S.","family":"Christen\u2010Zaech","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Dermatologie P\u00e9diatrique Services de Dermatologie et de P\u00e9diatrie D\u00e9partement Femme\u2010m\u00e8re\u2010enfant Site de l'H\u00f4pital de L'enfance Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8802-6448","authenticated-orcid":false,"given":"V.","family":"Carmignac","sequence":"additional","affiliation":[{"name":"Inserm UMR1231 GAD G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Sorlin","sequence":"additional","affiliation":[{"name":"Inserm UMR1231 GAD G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique M\u00e9dicale Centre de R\u00e9f\u00e9rence \u201cD\u00e9ficiences Intellectuelles de causes rares\u201d CHU de Dijon Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2438-1779","authenticated-orcid":false,"given":"K.","family":"Neuhaus","sequence":"additional","affiliation":[{"name":"Pediatric Skin Center Division of Plastic and Reconstructive Surgery Department of Surgery University Children's Hospital Zurich Zurich 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