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- Title
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.
- Authors
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; Fischer, Judith
- Abstract
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 report a novel JEB phenotype distinguished by the complete resolution of skin fragility in infancy and persistent ocular involvement with unremitting and painful corneal abrasions. Biallelic LAMB3 mutations c.3052-5C>G and c.3492_3493delCG were identified as the molecular basis for this phenotype, with one mutation being a hypomorphic splice variant that allows residual wild-type laminin-332 production. The reduced laminin-332 level was associated with impaired keratinocyte adhesion. Then, we also investigated the therapeutic power of a human amniotic membrane (AM) eyedrop preparation for corneal lesions. AM were isolated from placenta donors, according to a procedure preserving the AM biological characteristics as a tissue, and confirmed to contain laminin-332. We found that AM eyedrop preparation could restore keratinocyte adhesion in an in vitro assay. Of note, AM eyedrop administration to the patient resulted in long-lasting remission of her ocular manifestations. Our findings suggest that AM eyedrops could represent an effective, non-invasive, simple-to-handle treatment for corneal lesions in patients with JEB and possibly other EB forms.
- Subjects
AMNION; EPIDERMOLYSIS bullosa; PHENOTYPES; EYE drops; OCULAR manifestations of general diseases; KERATINOCYTE differentiation
- Publication
Genes, 2021, Vol 12, Issue 5, p716
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes12050716