title: Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.
abstract: 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-onycho-cutaneous syndrome, which is caused by a mutation in an isoform of the LAMA3 gene, LAMA3a. On investigation, our patient had a combination of a unique mutation in LAMA3 and the mutation I17N in LAMA3a, providing further evidence that laryngo-onycho-cutaneous syndrome is a variant of junctional EB.
authors.affiliation: Ophthalmology Department, Prince of Wales Hospital, Sydney, Australia.
authors.forename: Edwin C
authors.initials: EC
authors.lastname: Figueira
authors.forename: Anne
authors.initials: A
authors.lastname: Crotty
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Challinor
authors.forename: Minas T
authors.initials: MT
authors.lastname: Coroneo
authors.forename: Dedee F
authors.initials: DF
authors.lastname: Murrell
mesh_terms: D001324:Autoantigens / Q000378:metabolism; D002648:Child; D024141:Collagen Type IV / Q000378:metabolism; D003229:Conjunctival Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D004252:DNA Mutational Analysis; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D005141:Eyelid Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D019084:Fluorescent Antibody Technique, Indirect; D006097:Granulation Tissue / Q000473:pathology*; D006801:Humans; D007797:Laminin / Q000235:genetics; D007818:Laryngeal Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D009154:Mutation; D024041:Non-Fibrillar Collagens / Q000378:metabolism; D013577:Syndrome; D000097805:Collagen Type XVII
chemical_list: D001324:Autoantigens; D024141:Collagen Type IV; D007797:Laminin; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII; C095567:laminin alpha 3