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

[junctional epidermolysis bullosa]

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 LAMA 3 gene , LAMA 3 a . On investigation , our patient had a combination of a unique mutation in LAMA 3 and the mutation I 17 N in LAMA 3 a , providing further evidence that laryngo-onycho-cutaneous syndrome is a variant of junctional EB .

Diseases
Validation

Diseases presenting "adnexa" symptom

junctional epidermolysis bullosa

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