A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

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 corne...

Full description

Bibliographic Details
Main Authors: Daniele Castiglia, Paola Fortugno, Angelo Giuseppe Condorelli, Sabina Barresi, Naomi De Luca, Simone Pizzi, Iria Neri, Claudio Graziano, Diletta Trojan, Diego Ponzin, Sabrina Rossi, Giovanna Zambruno, Marco Tartaglia
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
hypomorphic <i>LAMB3</i> allele
laminin-332 assembly
corneal erosions
keratinocyte adhesion
Online Access:https://www.mdpi.com/2073-4425/12/5/716

Internet

https://www.mdpi.com/2073-4425/12/5/716

Similar Items