Three‐dimensional Sonographic Findings in Congenital (Harlequin) Ichthyosis

Abstract

arlequin ichthyosis is a lethal autosomal recessive disorder characterized by an extremely thickened keratin layer of skin, flattened ears, and diffuse platelike scales.1 Prenatal sonographic diagnosis has been described, with findings of a persistently open mouth, echogenic amniotic fluid, and fixed flexion of the extremities.2-5 Here we describe a case of harlequin ichthyosis in which the syndromic features were shown best on three-dimensional (3D) and four-dimensional (4D) real-time sonography. Case ReportThe patient was a 34-year-old woman, gravida 1, para 0, who was transferred from another institution with a history of large gushes of fluid and a diagnosis of preterm premature rupture of membranes at 32 weeks. Despite this condition, the amniotic fluid index at admission was 14, suggesting the possibility of preexisting polyhydramnios. The patient was treated with antibiotics, magnesium sulfate, and steroids. She was a gestational diabetic patient whose disease was controlled well by diet. Her antepartum course was otherwise uncomplicated. Second-trimester double biochemical marker screening results and 20-week sonographic findings were reported as normal. On sonography, the amniotic fluid was noted to be unusually echogenic for 32 weeks. The toes appeared short. Short fingers were more apparent on 3D surface rendering. The upper extremities appeared relatively fixed in position.

Prenatal sonographic diagnosis of Harlequin ichthyosis

“…Other US findings are polyhydramnios, echogenic amniotic fluid (the snow‐flake sign) caused by floating peeled skin, subcutaneous edema (particularly at the distal part of the limbs), and short umbilical cord . 3D or 4D US examination may be quite useful to better visualize these features …”

Harlequin Ichthyosis

“…In 3 cases, features suggestive of HI were seen, including rudimentary ears, flexion contractures at the knees, and dense floating particles in the amniotic fluid. In the last case, previously described by Vohra et al, 11 an open mouth with a protruding tongue and echogenic amniotic fluid were noted.…”

Prenatal Diagnosis of Harlequin Ichthyosis: Report of a Case

“…Although some attemps were made to use DNAbased analysis for earlier (i.e., first trimester) prenatal testing [6], US and fetoscopic-or ultrasound-guided fetal skin biopsies are generally preferred for prenatal diagnosis. With the widely usage of 3D and 4D ultrasound, the characteristic suggestive features of HI as eclabion, ectropion, rudimentary ears, flexion contractures at the knees, and dense floating particles in the amniotic fluid, are reported to be detected with higher frequency [8][9][10][11]. Moreover, some promising therapeutic interventions based on targeted molecular therapy and gene therapy strategies are also defined [12].…”