Article
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.
Genes - 11 May 2021
Castiglia Daniele, Fortugno Paola, Condorelli Angelo Giuseppe, Barresi Sabina, De Luca Naomi, Pizzi Simone, Neri Iria, Graziano Claudio, Trojan Diletta, Ponzin Diego, Rossi Sabrina, Zambruno Giovanna, Tartaglia Marco
Abstract excerpt
Junctional epidermolysis bullosa (JEB) is a clinically and genetically heterogeneous skin fragility disorder frequently caused by mutations in genes encoding the epithelial laminin isoform, laminin-332. JEB patients also present mucosal involvement, including painful corneal lesions. Recurrent corneal abrasions may lead to corneal opacities and visual impairment. Current treatments are merely supportive. We...
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