Reproductive alternatives for patients with dystrophic epidermolysis bullosa

Einstein (São Paulo)

关键词: Epidermólise bolhosa distrófica;    Colágeno tipo VII;    Membrana basal;    Hereditariedade;    Aconselhamento genético;   

DOI  :  10.31744/einstein_journal/2019rc4577

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown