Home > Journals > Giornale Italiano di Dermatologia e Venereologia > Past Issues > Giornale Italiano di Dermatologia e Venereologia 2016 August;151(4) > Giornale Italiano di Dermatologia e Venereologia 2016 August;151(4):397-402

CURRENT ISSUEGIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA

A Journal on Dermatology and Sexually Transmitted Diseases


Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,014


eTOC

 

REVIEWS  


Giornale Italiano di Dermatologia e Venereologia 2016 August;151(4):397-402

language: English

Molecular therapies for inherited epidermolysis bullosa

Cristina HAS

Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany


PDF  REPRINTS


Inherited epidermolysis bullosa (EB) comprises rare genetic disorders characterized by formation of blisters and erosions of skin and mucous membranes after minor mechanical trauma. The molecular basis and the pathomechanisms of the main EB types have been largely deciphered in the past decades. The burden of the disease is high and quality of life strongly affected. The treatment is still symptomatic aiming to support wound healing and resolve complications. Numerous experimental therapeutic approaches for EB have been explored in the last years, most of them dedicated to dystrophic EB. Although gene and cell therapies have been already applied in patients, molecular therapies including gene editing and repurposing of small molecules are currently very attractive. Recent data on the effect of small molecules, like aminoglycosides and angiotensin receptor blockers in preclinical models for dystrophic EB are encouraging. The efficacy in patients remains to be proven in clinical trials. Therapeutic efficacy, as well as unexpected outcomes must be carefully monitored.

top of page