08/Jun/2019
Reproductive alternatives for patients with dystrophic epidermolysis bullosa
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 […]
Keywords: Basement membrane; Collagen type VII; Epidermolysis bullosa dystrophica; Genetic counseling; Heredity