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2006-04-25-16 Answer to the case of the week 173 © Das www.TheFetus.net


Answer to the Case of the week #173

August 4 - 17, 2006

Debabrata Das, MD, Sulochana Neelakandam, MBBS

Coimbatore, India

Synonym: Harlequin fetus (OMIM 242500)

Case report: This is a 21-year-old woman, G2P1, referred to our unit for a routine scan at 32 weeks’ gestation. The fetal biometry was corresponding to 31-32 weeks. The amniotic fluid was echogenic. The fetus had persistently fixed open mouth with thick lips. There was an evidence of bilateral ectropion (complete eversion of eyelids with edematous and swollen conjunctiva). The fetal movements were restricted and subnormal. The fingers appeared short on 3D surface rendering. Based on the ultrasound findings, the interruption of the pregnancy was performed at 32 weeks.

The newborn showed all classic features of (Harlequin) Congenital Ichthyosis. The hands and feet showed hyperflexion of fingers. The toes were short. The fetal facial features corroborated to the sonographic appearance.

Congenital Ichthyosis is a lethal autosomal recessive disorder. This condition is rare.  Congenital Ichthyosis is a rare, lethal disorder resulting from a keratinizing disorder caused by mutations in the ABCA12 gene. The typical ultrasound findings of a harlequin fetus are the open mouth, thick lips and bilateral ectropion. The characteristic feature is a external thickened keratin layer of skin and diffuse plate scaled, giving a thick whitish armor like skin criss crossed by deep red grooves. These resemble a harlequin costume, hence the name “Harlequin Fetus”. Facial features include ectropion, eclabium and nasal hypoplasia. The limbs show restricted movements with hypoplastic toes and fingers. In the fetus described here the facial features  were depicted in 3D imaging. The head and the feet abnormality were confirmed after birth.


The edematous eyelids

The genitalia

The face with the ectropion and abnormal lips

The short fingers

The fetus after delivery

 

References:
1. Akiyama M.The pathogenesis of severe congenital icthyosis of the neonate . J Dermatol Sci 1999;21:96-104
2. Bongain A , Benoit B, Ejnes L, Laambert JC and Gillet JY. Harlequin fetus: three dimensional  sonographic features and new diagnostic approach.Ultrasound Obstet Gynecol 2002;20:82-85
3. Meizner I,Prenatal ultrasonic features in a rare case of congenital icthyosis (harlequin fetus) J Clin Ultrasound 1992;20:132-134.
4. Nidhi V, Burton R, Smith _levitin Three Dimensional ultrasonographic findingsin Congenital Icthyosis. J Ultrasound Medicine 22:737-739,2003

 

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