{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T21:04:47Z","timestamp":1789679087337,"version":"4.0.1"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,11,13]],"date-time":"2013-11-13T00:00:00Z","timestamp":1384300800000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Costello syndrome (\n                    <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>\n                    ) and cardiofaciocutaneous syndrome (\n                    <jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content>\n                    ) are congenital disorders involving the Ras\u2010\n                    <jats:styled-content style=\"fixed-case\">MAPK<\/jats:styled-content>\n                    pathway with phenotypic overlap. These two entities are thought to share common cutaneous findings, although so far they have been poorly studied. The objective of this prospective observational study was to describe the spectrum of skin findings in\n                    <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>\n                    and\n                    <jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content>\n                    and to highlight those specific to each of these two diseases. Patients with a confirmed diagnosis of\n                    <jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content>\n                    or\n                    <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>\n                    underwent a systematic skin examination during the annual workshop organized by the French\n                    <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>\n                    association in 2007 and 2009 in Bordeaux, France. Eighteen patients were included in the study. Specific skin abnormalities, including cutis laxa, curly hair, pruritus, and hyperhidrosis, are shared by\n                    <jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content>\n                    and\n                    <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>\n                    , whereas others may help to differentiate between these two syndromes. Acanthosis nigricans, papillomas, and loose thick skin of the dorsum of the hands are characteristic of\n                    <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>\n                    , whereas sparse eyebrows and dry hyperkeratotic skin are suggestive of\n                    <jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content>\n                    . Our results highlight that a systematic cutaneous examination, in addition to dysmorphologic and noncutaneous anomalies, may be helpful in establishing the diagnosis of\n                    <jats:styled-content style=\"fixed-case\">CFCS<\/jats:styled-content>\n                    and\n                    <jats:styled-content style=\"fixed-case\">CS<\/jats:styled-content>\n                    . The physiopathologic link between constitutional Ras\u2010\n                    <jats:styled-content style=\"fixed-case\">MAPK<\/jats:styled-content>\n                    pathway activation and the observed ectodermal findings remains to be investigated.\n                  <\/jats:p>","DOI":"10.1111\/pde.12171","type":"journal-article","created":{"date-parts":[[2013,11,13]],"date-time":"2013-11-13T07:23:22Z","timestamp":1384327402000},"page":"665-673","source":"Crossref","is-referenced-by-count":40,"title":["Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review"],"prefix":"10.1111","volume":"30","author":[{"given":"Fanny","family":"Morice\u2010Picard","sequence":"first","affiliation":[{"name":"Pediatric Dermatology Unit Department of Dermatology National Reference Centre for Rare Skin Disorders Bordeaux France"},{"name":"Department of Clinical Genetics Bordeaux Children's Hospital CHU de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaled","family":"Ezzedine","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Unit Department of Dermatology National Reference Centre for Rare Skin Disorders Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Ange","family":"Delrue","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Bordeaux Children's Hospital CHU de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Arveiler","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Bordeaux Children's Hospital CHU de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Fergelot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Bordeaux Children's Hospital CHU de Bordeaux Bordeaux 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