Questo sito utilizza cookie tecnici e consente l'invio di cookie di "terze parti" al fine di effettuare misure di traffico per la valutazione delle prestazioni del sito. Per saperne di più, clicca sull'apposito bottone "Maggiori dettagli", che aprirà in modalità pop up l'informativa estesa, dove è possibile avere informazioni per negare il consenso all'installazione di qualunque cookie. Cliccando il bottone OK, o cliccando su una qualsiasi altra area del sito, presterai consenso all'uso dei cookie.

                                 

                                                                                                                                  NUOVO LABORATORIO FBTV 

Segnalazioni urgenze

dalle ore 16.30 alle ore 8.00

320 6132439

Segnalazione donazioni Multitessuto

dalle ore 8.00 alle ore 20.00

328 8606362

DONA IL 5X1000 
Sostieni la ricerca per il trapianto

Inserisci il Codice Fiscale 04478760269 
Come si fa

 

___________________________________________________________________________________________

Insieme per continuare a crescere e  migliorare le possibilità di cura      

 

 

In Evidenza In Evidenza

Indietro

Nuova Pubblicazione Scientifica

Nuova Pubblicazione Scientifica

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 12 May 2021

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

 

Genes 2021, 12(5), 716 https://doi.org/10.3390/genes12050716 

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 longlasting
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.

Download abstract