Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome

Abstract

All cases of ichthyosis prematurity syndrome (IPS), registered at the National Center for Fetal

Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia

“…Besides the triad of premature birth, thick caseous desquamating epidermis and neonatal asphyxia, children with IPS also share several prenatal features 12. Prenatal ultrasound shows echogenic debris in the amniotic cavity.…”

Postnatal 2- and 3-Dimensional Sonography of the Skin and Nail in Congenital Autosomal Recessive Ichthyosis Correlated With Cutaneous Histologic Findings

“…Congenital autosomal recessive ichthyosis differs from another type of congenital ichthyosis called the “harlequin type.” The latter form is the most severe presentation among the spectrum of congenital ichthyoses and is usually lethal. To date, the reports about the use of sonography for congenital ichthyosis available in the literature are mostly related to the harlequin type, 3 – 5 which also has clinical findings similar to the ones already described for congenital autosomal recessive ichthyosis; however, additionally, the infants with harlequin ichthyosis commonly have severe cranial and limb deformities. Thus, the harlequin name was originated because of both the infant's apparent facial expression and the diamond shape of the scales of the skin (Arlecchino's costume), which are caused by severe hyperkeratosis.…”

Ichthyosis prematurity syndrome: Clinical evaluation of 17 families with a rare disorder of lipid metabolism

“…A detailed description of the ultrasound findings in 5 pregnancies followed up at the National Center for Fetal Medicine, St Olavs Hospital, Trondheim, Norway, will be described in a separate report. 7 In addition to polyhydramnios, the typical findings were separation of the chorionic and amniotic membranes, echogenic sediment in the amniotic fluid, clear chorionic fluid (Fig 1), and debris filling the stomach.…”