Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation
A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in FGFR2 (p.Cys382Arg). By 2 years of age, the patient developed hair heterochromia and autism spectrum disorder. Although RAVEN was initiall...
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| Veröffentlicht in: | Pediatric dermatology 2023-03, Vol.40 (2), p.382-384 |
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| container_title | Pediatric dermatology |
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| creator | Gracia‐Darder, Inés Llull Ramos, Ana Giacaman, Aniza Gómez Bellvert, Cristina Obrador‐Hevia, Antonia Jubert Esteve, Elisabeth Martín‐Santiago, Ana |
| description | A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in FGFR2 (p.Cys382Arg). By 2 years of age, the patient developed hair heterochromia and autism spectrum disorder. Although RAVEN was initially associated with fibroblast growth factor 3 (FGFR3) mutations, three cases of RAVEN have been identified with mutations in FGFR2 (p.Ser252Trp) and one case of linear keratinocytic epidermal nevi has been identified with the same mutation as the mutation identified in our patient. This strongly supports the pathogenic role of these mutations. |
| doi_str_mv | 10.1111/pde.15176 |
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By 2 years of age, the patient developed hair heterochromia and autism spectrum disorder. Although RAVEN was initially associated with fibroblast growth factor 3 (FGFR3) mutations, three cases of RAVEN have been identified with mutations in FGFR2 (p.Ser252Trp) and one case of linear keratinocytic epidermal nevi has been identified with the same mutation as the mutation identified in our patient. This strongly supports the pathogenic role of these mutations.</description><identifier>ISSN: 0736-8046</identifier><identifier>EISSN: 1525-1470</identifier><identifier>DOI: 10.1111/pde.15176</identifier><identifier>PMID: 36376059</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Animals ; Autism ; Autism Spectrum Disorder ; Autistic Disorder ; Case reports ; Coloration ; Crows ; Fibroblast growth factor 3 ; Fibroblast growth factor receptor 2 ; Fibroblast growth factor receptors ; genetic diseases/mechanisms ; Hair ; Hair - pathology ; hamartomas ; Humans ; Infant, Newborn ; Mutation ; Nevus ; Nevus - pathology ; Nevus, Sebaceous of Jadassohn ; Receptor, Fibroblast Growth Factor, Type 2 - genetics</subject><ispartof>Pediatric dermatology, 2023-03, Vol.40 (2), p.382-384</ispartof><rights>2022 Wiley Periodicals LLC.</rights><rights>2023 Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3886-3ad79e28788e5ff8059c15c0ff0650f29bd863be5784f5e08b2bdffd24db09ef3</citedby><cites>FETCH-LOGICAL-c3886-3ad79e28788e5ff8059c15c0ff0650f29bd863be5784f5e08b2bdffd24db09ef3</cites><orcidid>0000-0002-0438-1184 ; 0000-0001-7992-1555 ; 0000-0001-9366-3230</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpde.15176$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpde.15176$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27923,27924,45573,45574</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36376059$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gracia‐Darder, Inés</creatorcontrib><creatorcontrib>Llull Ramos, Ana</creatorcontrib><creatorcontrib>Giacaman, Aniza</creatorcontrib><creatorcontrib>Gómez Bellvert, Cristina</creatorcontrib><creatorcontrib>Obrador‐Hevia, Antonia</creatorcontrib><creatorcontrib>Jubert Esteve, Elisabeth</creatorcontrib><creatorcontrib>Martín‐Santiago, Ana</creatorcontrib><title>Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation</title><title>Pediatric dermatology</title><addtitle>Pediatr Dermatol</addtitle><description>A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in FGFR2 (p.Cys382Arg). 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This strongly supports the pathogenic role of these mutations.</description><subject>Animals</subject><subject>Autism</subject><subject>Autism Spectrum Disorder</subject><subject>Autistic Disorder</subject><subject>Case reports</subject><subject>Coloration</subject><subject>Crows</subject><subject>Fibroblast growth factor 3</subject><subject>Fibroblast growth factor receptor 2</subject><subject>Fibroblast growth factor receptors</subject><subject>genetic diseases/mechanisms</subject><subject>Hair</subject><subject>Hair - pathology</subject><subject>hamartomas</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Mutation</subject><subject>Nevus</subject><subject>Nevus - pathology</subject><subject>Nevus, Sebaceous of Jadassohn</subject><subject>Receptor, Fibroblast Growth Factor, Type 2 - genetics</subject><issn>0736-8046</issn><issn>1525-1470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kM9LwzAUgIMoOn8c_Ack4EXBuqRZ0vQ45qaCqAwVPJW0fXGRtZlJiuy_N3PTg-C75B2-fDw-hI4puaRx-osaLimnmdhCPcpTntBBRrZRj2RMJJIMxB7a9_6dECKFoLtojwmWCcLzHnqdwsK6gK3GClfKw2qbDl_G9xd4pozDMwjgbDVztjEKq7bGqgvGN9i0OMwAewjBtG-rb5PryTTFTRdUMLY9RDtazT0cbd4D9DwZP41ukruH69vR8C6pmJQiYarOckhlJiVwrWW8qqK8IloTwYlO87KWgpXAMznQHIgs07LWuk4HdUly0OwAna29C2c_OvChaIyvYD5XLdjOF2mMIKJKkIie_kHfbefaeF2kcprnjLA0UudrqnLWewe6WDjTKLcsKClWvYvYu_juHdmTjbErG6h_yZ_AEeivgU8zh-X_puLxarxWfgG-5IeA</recordid><startdate>202303</startdate><enddate>202303</enddate><creator>Gracia‐Darder, Inés</creator><creator>Llull Ramos, Ana</creator><creator>Giacaman, Aniza</creator><creator>Gómez Bellvert, Cristina</creator><creator>Obrador‐Hevia, Antonia</creator><creator>Jubert Esteve, Elisabeth</creator><creator>Martín‐Santiago, Ana</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-0438-1184</orcidid><orcidid>https://orcid.org/0000-0001-7992-1555</orcidid><orcidid>https://orcid.org/0000-0001-9366-3230</orcidid></search><sort><creationdate>202303</creationdate><title>Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation</title><author>Gracia‐Darder, Inés ; 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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Animals Autism Autism Spectrum Disorder Autistic Disorder Case reports Coloration Crows Fibroblast growth factor 3 Fibroblast growth factor receptor 2 Fibroblast growth factor receptors genetic diseases/mechanisms Hair Hair - pathology hamartomas Humans Infant, Newborn Mutation Nevus Nevus - pathology Nevus, Sebaceous of Jadassohn Receptor, Fibroblast Growth Factor, Type 2 - genetics |
| title | Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation |
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