Fetal Harlequin Ichthyosis – A Case Report

Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). This is a case report of congenital (Harlequin) ichthyosis which is also called harlequin fetus, a lethal keratinising disorder. An externally thickened keratin layer of skin and diffuse plate like scales characterize it. Prenatal sonographic diagnosis has been described, with 2D findings of a persistently open mouth, echogenic amniotic fluid and fixed flexion deformity of the extremities. The 3D sonographic features have been described showing the morphological appearance typical of harlequin fetus, namely the open mouth with thick lips. The most definitive prenatal sonographic diagnosis of this condition is by 3D, which may not be done routinely without a suspicious 2D feature. In this case report, we suggest that the appearance of facial profile is the most easily seen and earliest 2D feature of this condition. We also reveal that the description of some of the 2D features described earlier is to be modified. 3D and 4D ultrasonography helped to diagnose this very rare condition.