Prenatal Diagnosis of Congenital Bullous Ichthyosiform Erythroderma (Epidermolytic Hyperkeratosis) by Fetal Skin Biopsy

PRENATAL diagnostic studies are performed to determine whether a fetus believed to be at risk for a genetic disease is actually affected. For the most part, prenatal diagnosis relies on the cytogenetic or biochemical analysis of cultured amniotic-fluid cells. However, many genetic disorders are not reflected in amniotic-fluid constituents but may be in other tissues or cells. We report the use of fetoscopy1 and fetal skin biopsy in the diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) during the second trimester of pregnancy.Congenital bullous ichthyosiform erythroderma is an autosomal-dominant trait with major features of cutaneous erythroderma, bullae during infancy . . .