Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome |
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Authors: | Figueira Edwin C Crotty Anne Challinor Christopher J Coroneo Minas T Murrell Dedee F |
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Affiliation: | Ophthalmology Department, Prince of Wales Hospital, Sydney, Australia. |
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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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Keywords: | epidermolysis bullosa LAMA3 and LAMA3a mutations laryngo-onycho-cutaneous syndrome larynx |
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