{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T18:41:43Z","timestamp":1787856103688,"version":"build-2784847793"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,7,21]],"date-time":"2017-07-21T00:00:00Z","timestamp":1500595200000},"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":[[2017,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present concurrent X\u2010linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark\u2010brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next\u2010generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the <jats:italic><jats:styled-content style=\"fixed-case\">EBP<\/jats:styled-content><\/jats:italic> gene c.439C&gt;T (p.R147C) in conjunction with a single nonsense mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> gene (p.R501X) in both sisters. These individuals highlight the clinical variability of Conradi\u2013Hunermann\u2013Happle syndrome, illustrate the possibility of co\u2010occurrence of rare and common forms of ichthyosis, and demonstrate the utility of multigene analysis.<\/jats:p>","DOI":"10.1111\/pde.13227","type":"journal-article","created":{"date-parts":[[2017,7,21]],"date-time":"2017-07-21T08:22:48Z","timestamp":1500625368000},"source":"Crossref","is-referenced-by-count":3,"title":["Concurrent Chondrodysplasia Punctata Type 2 (Conradi\u2013Hunermann\u2013Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6013-4604","authenticated-orcid":false,"given":"Haneol S.","family":"Jeong","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Funari","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Gordon","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas"},{"name":"Pediatric Dermatology Children's Medical Center Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Richard","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nnenna G.","family":"Agim","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Texas Southwestern Medical Center Dallas Texas"},{"name":"Pediatric Dermatology Children's Medical Center Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12336"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1388-1981(00)00160-8"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0625.2001.100409.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2007.08254.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1743"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00669.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.1114"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200211000-00006"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0337"},{"key":"e_1_2_5_11_1","volume-title":"GeneReviews","author":"Dempsey MA","year":"1993"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10852"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273442"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0844-x"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi981804i"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/10357"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13227","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:27:56Z","timestamp":1695572876000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,21]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1111\/pde.13227"],"URL":"https:\/\/doi.org\/10.1111\/pde.13227","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,21]]}}}