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2017-08-26  Harlequin Ichthyosis  © Mahmoud Alalfy  www.TheFetus.net

Harlequin Ichthyosis
 
Mahmoud Alalfy .M.s.c, Omaima Idris M.D, Alaa Elebrashy M.D, Ebrahem Magdi M.D,  Hassan Gaafar M.D ,Mohamed Hegazy M.s.c , sheref  Elsirgany M.D ,Mahy mohsenM.s.c , Walaa Hussen M.s.c  ,  Mohamed Elhodeby M.D  

Cairo Fetal Medicine Unit , Egypt.



Harlequin icthyosis is a very  rare  genetic condition affecting the skin. It is the severest form of Icthyosis . 
It is an autosomal recessive  condition  with the most of the affected  fetuses  are homozygous  for mutation in the ABCA 12 gene .This disorder manifests with a very wide range of severity and symptoms .
 

Harlequin ichthyosis (HI) is a rare and lethal fetal anomaly.The other alternative names of HI are ; Icthyosis congenital gravior , harlequin fetus , Icthyosis fetalis , Icthyosis congenital Keratosis diffusa fetalis .

At birth, a newborn infant with HI has thickened, yellow colored, armor-like skin with fissures that divide the skin into polygonal sections. Facial anomalies include ectropion(eversion of the eyelids), eclabium (eversion of the lips), and a large, round, and wide open mouth. The nose and ears are hypoplastic. The limbs are usually short and held in a fixed, flexed position . affected neonates  usually don not   live after the first few days of neonatal life .(1).
 

The first case of prenatal diagnosis of HI was reported in 1983 (2).
 

 As the patient had a family history of two previously affected infants, the diagnosis of HI was based on fetal skin biopsies under fetoscopy. However, the use of this traumatic method for the prenatal diagnosis of HI is limited to pregnant  women with  a previously affected   child .The first case of prenatal sonographic diagnosis of HI was reported by Mihalko et al in 1989 (3). 

Since then, 12 cases describing the sonographic diagnosis of HI have been
published. Sonographic features of our case are discussed herein together with a collation and review of these previous reports. Furthermore, we provide a delineation of the sonographic markers of this rare disorder. (3)

 
 
Case report 

A 28-year-old  (G3P2) pregnant women 18 weeks  gestation was referred to our fetal medicine unit  for routine  second  trimester ulrasound scan .

Ultrasound scan revealed  overall  restricted fetal movement  and joint stiffness  and immobility, fixed flexed upper and lower extremities, bilateral clenched  hands, bilateral talipes ectovarus, feet shows also polydactyly, echogenic amniotic fluid  and polyhydramnios and mild  hyperechogenic bowel  was seen.

3D and 4D ultrasonography with HD rendering  was done and confirmed the previous finding  and also demonstrated  bilateral ectropion (eversion of the eyelids), eclabium (eversion of the lips), and a large, round, and wide open mouth, protruded tongue.

Also flat facial profile with flat nose . Thick wrinkled  skin .

Brain shows triventriculomegaly  with dilated posterior horns of both lateral ventricles  measure  14 mm with  dilated third ventricle measured 7mm , the cerebellum was hypoplastic with vermian agenesis , dandy walker malformation  with dilated cistern magna .

The  diagnosis of congenital harlequin icthyosis was  made , the patient was counseled about the poor prognosis of this case , after  counseling the patient  decided to terminate her pregnancy after 3 weeks  from diagnosis.

Postnatal photo  were  taken after permission  from the parents  and the diagnosis was confirmed.


 

Images 1, 2 and 3: 2D images of the fetal face in different planes showing the characteristic features of ichthyosis, open mouth, protruding eyes and also clubfoot. 

  



Images 4-7, videos 1 and 2: 3D images using HD live rendering of the fetal faces showing the typical aspect of harlequin ichthyosis.

  
 



Image 8: post-mortem image confirmed the ultrasonographic findings.

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