{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T03:20:43Z","timestamp":1773285643717,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,3,14]],"date-time":"2007-03-14T00:00:00Z","timestamp":1173830400000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Exper Ophthalmology"],"published-print":{"date-parts":[[2007,3]]},"abstract":"<jats:title>A<jats:sc>bstract<\/jats:sc><\/jats:title><jats:p>Eye and adnexal involvement in epidermolysis bullosa can range from symptoms of mild irritation resulting from conjunctival involvement to severe cicatrization of the ocular surface and adnexa. We describe a unique case of granulation tissue in the eyelid margin and conjunctiva in a patient with junctional epidermolysis bullosa. The eyelid granulation tissue resembled granulomas that seen in laryngo\u2013onycho\u2013cutaneous syndrome, which is caused by a mutation in an isoform of the <jats:italic>LAMA3<\/jats:italic> gene, <jats:italic>LAMA3a<\/jats:italic>. On investigation, our patient had a combination of a unique mutation in <jats:italic>LAMA3<\/jats:italic> and the mutation I17N in <jats:italic>LAMA3a<\/jats:italic>, providing further evidence that laryngo\u2013onycho\u2013cutaneous syndrome is a variant of junctional EB.<\/jats:p>","DOI":"10.1111\/j.1442-9071.2006.01436.x","type":"journal-article","created":{"date-parts":[[2010,9,13]],"date-time":"2010-09-13T15:51:37Z","timestamp":1284393097000},"page":"163-166","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo\u2013onycho\u2013cutaneous syndrome"],"prefix":"10.1111","volume":"35","author":[{"given":"Edwin C","family":"Figueira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Crotty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher J","family":"Challinor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minas T","family":"Coroneo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dedee F","family":"Murrell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3,14]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2000.106369"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30035"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.2.231"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1996.tb07866.x"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg234"},{"key":"e_1_2_5_7_2","first-page":"16","article-title":"Laryngo\u2013onycho\u2013cutaneous syndrome\u2010a study of 22 cases","volume":"2","author":"Shabbir G","year":"1986","journal-title":"Biomedica"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0630-1"},{"key":"e_1_2_5_9_2","unstructured":"MurrellDF.Eyelid granulomas in late\u2010onset Herlitz junctional EB. Proceedings of the International Symposium on Epidermolysis Bullosa; October 2003 Institute for Child Health London UK."},{"key":"e_1_2_5_10_2","first-page":"A10","article-title":"Late onset Herlitz junctional epidermolysis bullosa mimicking laryngo\u2013onycho\u2013cutaneous syndrome","volume":"125","author":"Murrell DF","year":"2005","journal-title":"J Invest Dermatol"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2004.03.034"}],"container-title":["Clinical &amp; Experimental Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1442-9071.2006.01436.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1442-9071.2006.01436.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T04:30:25Z","timestamp":1697430625000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1442-9071.2006.01436.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,3]]}},"alternative-id":["10.1111\/j.1442-9071.2006.01436.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1442-9071.2006.01436.x","archive":["Portico"],"relation":{},"ISSN":["1442-6404","1442-9071"],"issn-type":[{"value":"1442-6404","type":"print"},{"value":"1442-9071","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,3]]},"assertion":[{"value":"2007-03-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}