OC8.06: Harlequin ichthyosis—sonographic findings at 25 weeks in an unsuspected pregnancy (case report)

Abstract

Harlequin baby is the most severe, very rare form of the congenital ichthyosis. This is an autosomal recessive disorder with a 25% reccurence risk in each pregnancy. Abnormal gene is unknown. Skin—extremely thick, diamond-like scales resembling harlequin clown suit. Eyes—everted free edges of the upper and lower eyelids (ectropion). Ears—small, rudimentary or absent. Lips—severe traction causes eclabium and fixed, open mouth. Nose—hypoplastic. Limbs—flexed position with deformity, hypoplastic fingers and toes. A 39-year-old woman G 3, P 2 (two healthy children aged 10 and 13 years) was referred for the first ultrasound at 14 weeks. The survey of the fetus did not reveal any abnormality. The patient refused genetic amniocentesis. Second scan was done at 25 weeks and revealed presence of an abnormal structure overhanging the eyes and flat facial profile. Cordocetesis was performed, karyotype was abnormal 46,XY, 1qh (+), but the same as mother's. At the next scans in 3–4 weeks intervals we observed also fixed open mouth, abnormal ears looked like fused with the eyes. Extremities were normal. The diagnosis was not established prenatally. Because of a deformity of the face we prepared parents for a very abnormal appearance of the baby. Newborn with a congenital ichthyosis was vaginally delivered at 37 weeks in our institution. In this case on two-dimension ultrasound at 25 weeks we observed an abnormal structure above the eyes and flat profile. These are early 2D features of harlequin baby picked up in unsuspected pregnancy.