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Malignant progression of oral leukoplakia to squamous cell carcinoma (SCC) is rare in DC, especially in younger patients, and cutaneous SCC is only reported in 1.5% of cases of DC. Here we report a case of a 12\u2010year\u2010old female with a familial heterozygous <jats:italic>RTEL1<\/jats:italic> (regulator of telomere elongation helicase 1) gene mutation associated with a severe phenotype of DC characterized by multiple cutaneous SCCs.<\/jats:p>","DOI":"10.1111\/pde.15750","type":"journal-article","created":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T06:28:42Z","timestamp":1726727322000},"page":"170-174","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial <scp><i>RTEL1<\/i><\/scp> Mutation"],"prefix":"10.1111","volume":"42","author":[{"given":"Faiza","family":"Ahmed","sequence":"first","affiliation":[{"name":"Department of Dermatology Texas Tech University Health Sciences Center  Lubbock Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0191-0743","authenticated-orcid":false,"given":"Kristina","family":"Blegen","sequence":"additional","affiliation":[{"name":"Department of Dermatology Texas Tech University Health Sciences Center  Lubbock Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Tarbox","sequence":"additional","affiliation":[{"name":"Department of Dermatology Texas Tech University Health Sciences Center  Lubbock Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u2010226736"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2009.01.010"},{"key":"e_1_2_6_4_1","volume-title":"Dyskeratosis Congenita","author":"Garofola C.","year":"2024"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10225404"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20103046.2007.00721.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation\u20102011.1.480"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation\u20102017.1.96"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2023.1098876"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/10428199409051671"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmcr.2023.101810"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005666"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/845125"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.90"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.2147\/JBM.S47437"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/jop.12339"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601\u20100825.2007.01394.x"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joms.2020.12.018"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000001478"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2021.02.027"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102008\u201012\u2010192880"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sder.2012.08.005"},{"key":"e_1_2_6_23_1","volume-title":"Squamous Cell Skin Cancer. 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