einstein (São Paulo). 08/Jun/2019;17(3):eRC4577.
Reproductive alternatives for patients with dystrophic epidermolysis bullosa
Denise Maria Christofolini
, José Ricardo Magliocco Ceroni
, Giovanna Guimarães Soares
, Gustavo Bertollini Lamy
, Ana Carolina Nemeth Calvo
, Tamara Alba dos Santos
, Bianca Del Bel Sonoda
, Bianca Bianco
, Caio Parente Barbosa
DOI: 10.31744/einstein_journal/2019RC4577
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.
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