{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T04:08:20Z","timestamp":1749182900280,"version":"3.41.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Telomere biology disorders (TBD) are a complex set of inherited illnesses characterized by short telomeres. Dyskeratosis congenita (DC), which is now considered a severe TBD phenotype, is characterized by reticulated pigmentary changes, nail dystrophy, premalignant oral leukoplakia, and systemic involvement. This case describes a 2\u2010year\u2010old female with reticulated pigmentary changes and Terry's nails who was found to have a <jats:italic>TERT<\/jats:italic> variant and short telomeres; she lacked other mucocutaneous and systemic features of TBD. This report describes a unique clinical presentation of TBD and highlights the importance of upholding suspicion for TBD in individuals with limited or subtle features of classic DC.<\/jats:p>","DOI":"10.1111\/pde.15735","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T11:10:59Z","timestamp":1725361859000},"page":"139-144","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Reticulated pigmentary changes and Terry's nails in a patient with a <scp><i>TERT<\/i><\/scp> variant\u2010associated telomere biology disorder"],"prefix":"10.1111","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-2980-2140","authenticated-orcid":false,"given":"Sasan D.","family":"Noveir","sequence":"first","affiliation":[{"name":"David Geffen School of Medicine at University of California Los Angeles  Los Angeles California USA"},{"name":"Division of Dermatology, Department of Medicine David Geffen School of Medicine at University of California Los Angeles  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jayden","family":"Galamgam","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Medicine David Geffen School of Medicine at University of California Los Angeles  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deeti","family":"Pithadia","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Medicine David Geffen School of Medicine at University of California Los Angeles  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Truong","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Medicine David Geffen School of Medicine at University of California Los Angeles  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcia","family":"Hogeling","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Medicine David Geffen School of Medicine at University of California Los Angeles  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol E.","family":"Cheng","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Medicine David Geffen School of Medicine at University of California Los Angeles  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010021\u201000198\u20105"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/hematology.2022000394"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.5001\/omj.2013.78"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2023.10.034"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/6300329"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ddg.14268"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40257\u2010022\u201000671\u20106"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2011.11.002"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa042980"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0007176"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1474\u20109726.2007.00324.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0508124102"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.12317"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.170"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2006.263"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102008\u201012\u2010192880"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15735","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T14:29:38Z","timestamp":1749133778000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15735"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,3]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1111\/pde.15735"],"URL":"https:\/\/doi.org\/10.1111\/pde.15735","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2024,9,3]]},"assertion":[{"value":"2024-05-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}