TY - JOUR
T1 - Progress in epidermolysis bullosa: Summary of a workshop in CILAD-2010
AU - Salas-Alanis, Julio Cesar
AU - Cepeda-Valdes, Rodrigo
AU - Mellerio, Jemima E.
AU - Christiano, Angela M.
AU - Uitto, Jouni
N1 - Copyright:
Copyright 2013 Elsevier B.V., All rights reserved.
PY - 2012/6/1
Y1 - 2012/6/1
N2 - Background Epidermolysis bullosa (EB), a group of blistering disorders, manifests with fragility of skin and mucous membranes, with considerable phenotypic variability. As many as 15 distinct genes have been shown to harbor mutations inheritable forms of EB. The types and combinations of mutations in these genes and their consequences at the mRNA and protein levels, when placed on the affected individuals' genetic background and the external trauma, explain the spectrum of phenotypes encountered in this disorder. Methods A group of eminent researchers and physician-scientists convened in Cancún, Mexico, as part of the CILAD-2010 Meeting, to discuss the most recent progress in diagnosis and management of patients with EB, with emphasis on development of novel treatment strategies. Results The information on specific mutations in the candidate genes has been helpful in establishing genotype/phenotype correlations and has formed the basis for prenatal testing and preimplantation of genetic diagnosis for EB. Conclusions In spite of the progress in molecular genetics of EB, there is no specific and effective treatment, and management of these patients continues to present tremendous clinical challenges. This overview summarizes the presentations and discussions in this international workshop.
AB - Background Epidermolysis bullosa (EB), a group of blistering disorders, manifests with fragility of skin and mucous membranes, with considerable phenotypic variability. As many as 15 distinct genes have been shown to harbor mutations inheritable forms of EB. The types and combinations of mutations in these genes and their consequences at the mRNA and protein levels, when placed on the affected individuals' genetic background and the external trauma, explain the spectrum of phenotypes encountered in this disorder. Methods A group of eminent researchers and physician-scientists convened in Cancún, Mexico, as part of the CILAD-2010 Meeting, to discuss the most recent progress in diagnosis and management of patients with EB, with emphasis on development of novel treatment strategies. Results The information on specific mutations in the candidate genes has been helpful in establishing genotype/phenotype correlations and has formed the basis for prenatal testing and preimplantation of genetic diagnosis for EB. Conclusions In spite of the progress in molecular genetics of EB, there is no specific and effective treatment, and management of these patients continues to present tremendous clinical challenges. This overview summarizes the presentations and discussions in this international workshop.
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U2 - 10.1111/j.1365-4632.2011.05130.x
DO - 10.1111/j.1365-4632.2011.05130.x
M3 - Article
SN - 0011-9059
VL - 51
SP - 682
EP - 687
JO - International Journal of Dermatology
JF - International Journal of Dermatology
IS - 6
ER -