1.
Clin Exp Ophthalmol
; 35(2): 163-6, 2007 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17362460
RESUMO
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.