Patients affected by epidermolysis bullosa (EB) , a rare genetic connective tissue disorder with symptom of extremely fragile skin that blisters and tears from minor friction or trauma , are suffering from many problems . EB is always painful, often pervasive and debilitating, and is in some cases lethal before the age of 30 .Internal organs and bodily systems can also be seriously affected .
Daily wound care, pain management, and protective bandaging are the only options available for people with EB.
Although there is not a real cure for EB , I want to start researching in order to improve their quality of life and reduce their pain and problems .
So, I wounder if I could be guided by your answer what is most important issue ?
Dear Hanie,
Maybe the following recent papers will help you:
Uitto J, Bruckner-Tuderman L, Christiano AM, McGrath JA, Has C, South AP, Kopelan B, Robinson EC. Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015. J Invest Dermatol 2016;136(2):352-8. http://www.jidonline.org/article/S0022-202X(15)00051-2/pdf
Peking P, Koller U, Murauer EM. Functional therapies for cutaneous wound repair in epidermolysis bullosa. Adv Drug Deliv Rev 2017 Dec 15. pii: S0169-409X(17)30306-X. doi: 10.1016/j.addr.2017.12.003. [Epub ahead of print]. https://ac.els-cdn.com/S0169409X1730306X/1-s2.0-S0169409X1730306X-main.pdf?_tid=881f85db-003c-442b-af71-c7213b19c27a&acdnat=1520354699_9ce47bdfa891fa7aff060df1b77479a5
Parvizi MM, Lankarani KB, Handjani F, Ghahramani S, Parvizi Z, Rousta S. Health literacy in patients with epidermolysis bullosa in Iran. J Educ Health Promot 2017;6:105. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747211/
Wally V, Hovnanian A, Ly J, Buckova H, Brunner V, Lettner T, et al. Diacerein Orphan Drug Development for Epidermolysis Bullosa Simplex: A Phase 2/3 Randomized, Placebo-Controlled, Double-Blind Clinical Trial. J Am Acad Dermatol. 2018 Feb 1. pii: S0190-9622(18)30130-0. doi: 10.1016/j.jaad.2018.01.019. [Epub ahead of print]. http://www.jaad.org/article/S0190-9622(18)30130-0/pdf
Dakiw Piaceski A, Larouche D, Ghani K, Bisson F, Cortez Ghio S, Larochelle S, Moulin MJ, Caruso M1, Germain L. Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosa. Eur Cell Mater 2018;35:73-86. http://www.ecmjournal.org/papers/vol035/pdf/v035a06.pdf
Best wishes from Germany,
Martin
I have no experience with EB. However, my field is rare disease in general and Neurofibromatosis, in particular . About the EB a colleague of mine is a great inspiration because she has a very simple idea: She is a healthy person!. So that, she has a work, dance's group, friends... whatever, she is doing everything of she wants.
Although she got your bachelor´s degree in Computational Science she is not allowed to work because of the EB's complications. It is possible to know her on the FB (https://www.facebook.com/annacarolina.rocha.58?hc_ref=ARQCQjYC7KSOOMTq6id54outZclbJmCZ9PeKn8Q8OmLMukdcUY1myPXd7BK5UTvOo84&fref=nf)
Maybe, you both can share some ideas.
Mr Rogerio lima Barbosa , thank you !
nothing is better than their own experiences .
thanks a lot for your introducing..
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