Reproductive alternatives for patients with dystrophic epidermolysis bullosa

• Autor(a) principal: Christofolini,Denise Maria
• Data de Publicação: 2019
• Outros Autores: Ceroni,José Ricardo Magliocco, Soares,Giovanna Guimarães, Lamy,Gustavo Bertollini, Calvo,Ana Carolina Nemeth, Santos,Tamara Alba dos, Sonoda,Bianca Del Bel, Bianco,Bianca, Barbosa,Caio Parente
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Einstein (São Paulo)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082019000300500
• topic: Epidermolysis bullosa dystrophica; Collagen type VII; Basement membrane; Heredity; Genetic counseling

ABSTRACT 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.