einstein (São Paulo). 08/Jun/2019;17(3):eRC4577.

Reproductive alternatives for patients with dystrophic epidermolysis bullosa

Denise Maria Christofolini ORCID logo , José Ricardo Magliocco Ceroni ORCID logo , Giovanna Guimarães Soares ORCID logo , Gustavo Bertollini Lamy ORCID logo , Ana Carolina Nemeth Calvo ORCID logo , Tamara Alba dos Santos ORCID logo , Bianca Del Bel Sonoda ORCID logo , Bianca Bianco ORCID logo , Caio Parente Barbosa ORCID logo

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.

Reproductive alternatives for patients with dystrophic epidermolysis bullosa

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