{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T21:49:29Z","timestamp":1775080169277,"version":"3.50.1"},"reference-count":6,"publisher":"FapUNIFESP (SciELO)","issue":"6 suppl 1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["An. Bras. Dermatol."],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>Verrucous epidermal nevi are congenital hamartomas composed of keratinocytes and may occur alone or in association with developmental abnormalities. A close relationship between variations in the PIK3CA and FGFR3 genes and the appearance of nevi has been recently reported. Based on that, we performed molecular assays for the identification of E542K, E545G\/K and H1047R mutations in the PIK3CA gene and of the R248C mutation in the FGFR3 gene. Interestingly, during the amplification process, we did not observe the PCR product of exon 9 of the PIK3CA gene, a region comprising amino acids 542-545. This strongly suggests the occurrence of a microdeletion of that region and indicates a possible allelic variant, which has not yet being described in the literature.<\/jats:p>","DOI":"10.1590\/abd1806-4841.20132055","type":"journal-article","created":{"date-parts":[[2014,1,30]],"date-time":"2014-01-30T19:47:30Z","timestamp":1391111250000},"page":"36-38","source":"Crossref","is-referenced-by-count":11,"title":["Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus"],"prefix":"10.1590","volume":"88","author":[{"given":"Ludmilla Queir\u00f3s","family":"Miranda","sequence":"first","affiliation":[{"name":"Dermatologist, private practice - Goi\u00e2nia (GO),  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tain\u00e1 Scalfoni","family":"Fracaroli","sequence":"additional","affiliation":[{"name":"Dermatologist, private practice - Rio de Janeiro (RJ),  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Carlos Macedo","family":"Fonseca","sequence":"additional","affiliation":[{"name":"University of the State of Rio de Janeiro,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Fontenelle","sequence":"additional","affiliation":[{"name":"Oswaldo Cruz Foundation,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raphael Pedro Machado","family":"Curvo","sequence":"additional","affiliation":[{"name":"University of the State of Rio de Janeiro,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u00eds Crist\u00f3v\u00e3o","family":"Porto","sequence":"additional","affiliation":[{"name":"University of the State of Rio de Janeiro,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Souto","sequence":"additional","affiliation":[{"name":"University of the State of Rio de Janeiro,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","series-title":"Rook's textbook of dermatology","first-page":"62","volume-title":"Systemic disease and the skin","author":"Cox NH","year":"2010","edition":"8 ed"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1172\/JCI28163","article-title":"Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi","volume":"116","author":"Hafner C","year":"2006","journal-title":"J Clin Invest"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/1471-2350-12-79","article-title":"Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation","volume":"12","author":"Bygum A","year":"2011","journal-title":"BMC Med Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"13450","DOI":"10.1073\/pnas.0705218104","article-title":"Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern","volume":"104","author":"Hafner C","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/nrg1879","article-title":"The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism","volume":"7","author":"Engelman JA","year":"2006","journal-title":"Nat Rev Genet"},{"key":"ref6","first-page":"729","article-title":"Case for diagnosis. Inflammatory linear verrucous epidermal nevus","volume":"85","author":"Gon AS","year":"2010","journal-title":"An Bras Dermatol"}],"container-title":["Anais Brasileiros de Dermatologia"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/abd\/v88n6s1\/0365-0596-abd-88-06-s1-0036.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T15:00:41Z","timestamp":1747666841000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0365-05962013000800036&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":6,"journal-issue":{"issue":"6 suppl 1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S0365-05962013000800036"],"URL":"https:\/\/doi.org\/10.1590\/abd1806-4841.20132055","relation":{},"ISSN":["0365-0596"],"issn-type":[{"value":"0365-0596","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}