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

Abstract

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 . . .