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Clin Exp Ophthalmol. 2007 Mar;35(2):163-6.

Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.

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1
Ophthalmology Department, Prince of Wales Hospital, Sydney, Australia.

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.

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