Prenatal exclusion of Herlitz syndrome by electron microscopy of fetal skin biopsies obtained at fetoscopy

Abstract

Two women had each borne a child who had died of Herlitz syndrome, i.e., epidermolysis bullosa atrophicans generalisata gravis. In subsequent pregnancies, the women requested prenatal diagnosis. Samples of skin from the two fetuses were obtained at fetoscopy in the 19th week of gestation. In both cases the disorder could be ruled out prenatally on the basis of ultrastructural demonstration of the regular presence of normal hemidesmosomes with well-developed sub-basal dense plates at the dermo-epidermal junction. The infants were subsequently born and had normal skin, the sites of fetal skin biopsies showing no scarring.