{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T05:51:44Z","timestamp":1761630704478},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,12,16]],"date-time":"2014-12-16T00:00:00Z","timestamp":1418688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a 2\u2010year\u2010old boy from a family with limited financial resources who presented with cutaneous abnormalities, a history of congenital heart defect, and a presumptive diagnosis of Noonan syndrome. Genetic testing had been deferred because of a lack of funds. Skin findings were characteristic of cardiofaciocutaneous syndrome, including keratosis pilaris, ichthyosis, sparse eyebrows, and multiple nevi. A biopsy of a perifollicular thick papule with background hyperpigmentation was obtained to further characterize the cutaneous findings. Clinical evaluation allowed rapid, cost\u2010effective, specific diagnosis in this patient with a <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content>opathy\u2010spectrum genetic disorder who did not have access to genetic testing. This time\u2010honored clinical approach is adequate for providing information important for\u00a0prognosis, follow\u2010up, and counseling. We will also discuss available resources for genetic testing and specialized care for patients with <jats:styled-content style=\"fixed-case\">RAS<\/jats:styled-content>opathies.<\/jats:p>","DOI":"10.1111\/pde.12494","type":"journal-article","created":{"date-parts":[[2014,12,16]],"date-time":"2014-12-16T14:11:19Z","timestamp":1418739079000},"source":"Crossref","is-referenced-by-count":6,"title":["Clinicopathologic Evaluation of Cardiofaciocutaneous Syndrome: Overcoming the Challenges of Diagnosing a Rare Genodermatosis"],"prefix":"10.1111","volume":"32","author":[{"given":"Zachary T.","family":"Bryan","sequence":"first","affiliation":[{"name":"Department of Dermatology School of Medicine Saint Louis University St. Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tricia A.","family":"Missall","sequence":"additional","affiliation":[{"name":"Department of Dermatology School of Medicine Saint Louis University St. Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacy","family":"Stieren","sequence":"additional","affiliation":[{"name":"Department of Dermatology School of Medicine Saint Louis University St. Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Siegfried","sequence":"additional","affiliation":[{"name":"Department of Dermatology School of Medicine Saint Louis University St. Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole M.","family":"Burkemper","sequence":"additional","affiliation":[{"name":"Department of Dermatology School of Medicine Saint Louis University St. Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,12,16]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054460"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.10122.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.09.002"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10744.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(93)70108-6"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2004.02102.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(90)70126-3"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30295"},{"key":"e_1_2_4_10_1","unstructured":"Simple NCBI Directory.National Center for Biotechnology Information. U.S. National Library of Medicine [online]. Available athttp:\/\/www.ncbi.nlm.nih.gov\/gtr\/tests\/?term=noonanspectrumpanel&condition. Accessed on November 15 2012."},{"key":"e_1_2_4_11_1","unstructured":"Prices & CPT Codes.LMM Price List & CPT Codes[online]. Available athttp:\/\/personalizedmedicine.partners.org\/Laboratory-For-Molecular-Medicine\/Ordering\/CPT-Current-Procedural-Terminology-Codes.aspx. Accessed November 15 2012."},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000331266"},{"key":"e_1_2_4_13_1","unstructured":"NORD's Patient Assistance Programs.National Organization for Rare Disorders[online]. Available athttp:\/\/www.rarediseases.org\/patients-and-families. Accessed November 20 2012."},{"key":"e_1_2_4_14_1","unstructured":"Children's Hospital of Wisconsin. Neurofibromatosis and RASopathy Program. 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