{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T14:42:52Z","timestamp":1785768172016,"version":"3.56.0"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T00:00:00Z","timestamp":1631491200000},"content-version":"vor","delay-in-days":12,"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":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background\/Objectives<\/jats:title>\n                    <jats:p>\n                      Laryngo\u2010onycho\u2010cutaneous syndrome (LOC) is a rare subtype of junctional epidermolysis bullosa (JEB), featuring aberrant granulation tissue formation in the skin, larynx, and eyes. So far, three mutations including the specific (founder) mutation in exon 39 of\n                      <jats:italic>LAMA3<\/jats:italic>\n                      (c.151dup) have been identified, but sparse data exists regarding the natural history, the genotype\u2010phenotype correlation, and its differentiation from other JEB types.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We reviewed our pediatric EB database to identify English children with clinical and genetically diagnosed LOC within the last 15\u00a0years. Their demographic, clinical, and laboratory data were examined. We searched three databases for case reports of LOC between January 1986 and November 2020 and extracted clinical and molecular details.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified 6 LOC patients, all female (mean age 5.4\u00a0years). Periungual hypergranulation and skin fragility were the earliest presenting signs (0\u20103\u00a0months), followed by laryngeal stenosis, symblepharon (mean onset 10.7 and 11.8\u00a0months, respectively), and dental abnormalities. Five children developed anemia at an average of 19.2\u00a0months. We identified 22 published studies in English with 31 cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study delineates the disease course of LOC and highlights the overlap with some forms of JEB. Classical signs\/symptoms including anemia appear early in life. Genetic analysis revealed three new LOC\u2010associated variants and underscores the finding that interpretation of skin immunolabeling and molecular diagnostics can be challenging. We provide recommendations on management of this complex syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/pde.14790","type":"journal-article","created":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T04:41:27Z","timestamp":1631508087000},"page":"1094-1101","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["The natural history of laryngo\u2010onycho\u2010cutaneous syndrome: A case series of six pediatric patients and literature review"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5255-8140","authenticated-orcid":false,"given":"Christine","family":"Prodinger","sequence":"first","affiliation":[{"name":"Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subhanitthaya","family":"Chottianchaiwat","sequence":"additional","affiliation":[{"name":"Department of Dermatology Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jemima E.","family":"Mellerio","sequence":"additional","affiliation":[{"name":"St. John's Institute of Dermatology King's College London Guy's Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"McGrath","sequence":"additional","affiliation":[{"name":"St. John's Institute of Dermatology King's College London Guy's Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Ozoemena","sequence":"additional","affiliation":[{"name":"Viapath, Guy\u2019s and St Thomas' NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Liu","sequence":"additional","affiliation":[{"name":"Viapath, Guy\u2019s and St Thomas' NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Laimer","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology University Hospital of the Paracelsus Medical University Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Petrof","sequence":"additional","affiliation":[{"name":"Department of Dermatology Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna E.","family":"Martinez","sequence":"additional","affiliation":[{"name":"Department of Dermatology Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,9,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-45698-9_38"},{"key":"e_1_2_8_3_1","first-page":"15","article-title":"Laryngo\u2010onycho\u2010cutaneous syndrome: a study of 22 cases","volume":"2","author":"Shabbir G","year":"1986","journal-title":"Biomedica"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2009.11.019"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.70.4.319"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.010"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2010.01.005"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg234"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.14173"},{"key":"e_1_2_8_10_1","first-page":"A10","article-title":"Late onset herlitz junctional epidermolysis bullosa mimicking laryngo\u2010onycho\u2010cutaneous syndrome","volume":"125","author":"Murrell DF","year":"2005","journal-title":"J Invest Dermtol"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijdvl.IJDVL_947_19"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/2059513119868659"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18475"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/MLG.0b013e318093ed8e"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348949410300410"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2008.08507.x"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.20056"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-9071.2006.01436.x"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2004.03.034"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003226-200110000-00016"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2004.059121"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18921"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2010.109"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12157"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2007.06.039"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.006"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14790","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14790","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14790","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T16:09:11Z","timestamp":1696522151000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14790"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["10.1111\/pde.14790"],"URL":"https:\/\/doi.org\/10.1111\/pde.14790","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.740804693.793588602","asserted-by":"object"}]},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"2021-09-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}