Reproductive alternatives for patients with dystrophic epidermolysis bullosa

Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which classified as simplex, 5% dystrophic, 1% junct...

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Detalles Bibliográficos
Autores principales: Christofolini, Denise Maria, Ceroni, José Ricardo Magliocco, Soares, Giovanna Guimarães, Lamy, Gustavo Bertollini, Calvo, Ana Carolina Nemeth, dos Santos, Tamara Alba, Sonoda, Bianca Del Bel, Bianco, Bianca, Barbosa, Caio Parente
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6559778/
https://www.ncbi.nlm.nih.gov/pubmed/31215591
http://dx.doi.org/10.31744/einstein_journal/2019RC4577
Descripción
Sumario:Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which classified as simplex, 5% dystrophic, 1% junctional and 2% non-classified. Dystrophic epidermolysis bullosa is associated with autosomal, dominant and recessive inheritance. Epidermolysis bullosa causes severe psychological, economic and social impacts, and there is currently no curative therapy, only symptom control. Embryonic selection is available for epidermolysis bullosa patients in order to prevent perpetuation of the condition in their offspring.

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