Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.
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.
Figueira
Edwin C
EC
Ophthalmology Department, Prince of Wales Hospital, Sydney, Australia.
Crotty
Anne
A
Challinor
Christopher J
CJ
Coroneo
Minas T
MT
Murrell
Dedee F
DF
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
D001324:Autoantigens; D024141:Collagen Type IV; D007797:Laminin; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII; C095567:laminin alpha 3