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 2015-10-05  Case of the week # 408  © Islam Badr

Answer to the case of the week # 408

November 19 2015 - December 03 2015

Ibraheem Magdy M. Sc.1, Islam Badr, M Sc.1Sameh Abdel Latif Abdel Salam, M Sc.2.

1.Fetal Medicine Unit, Cairo University, Egypt.

2.Radiodiagnosis Department, Kasr Alainy Teaching Hospitals, Cairo University,Egypt.

Case report

A 32 years old (G7P6) female patient was sent to our unit at the 25 weeks of gestation for congenital anomaly scan. 
Her 3rd and 5th pregnancies ended in two fetuses with a congenital anomaly, not documented and only discovered after birth. Two congenital anomaly scans during the current pregnancy were reported to be normal but follow up was recommended due to her history. 

Our ultrasound examination revealed the following:
  • Flat profile
  • Eversion of the fetal lips and eyelids, more evident on the left side
  • The fetal mouth was consistently open with the tongue protruding during the whole examination.
  • Flattened ears
  • The fetal hands and foot showed fixed hyper flexed toes.

Congenital harlequin icthyosis was suspected based in the prenatal findings and in particularly, s
urface rendering facial images.

The parents opted for termination of pregnancy and our diagnosis was confirmed postnatally.

According to our case; the surface rendering of the fetal face was the clue for diagnosis.

Image 1 and pathologic correlacion: 
reveal eversion of eyelid (ectropion), more evident on the left side.
Also show the absent external right ear in postnatal correlation.


Image 2 and pathologic correlation: 
short nasal bone with flat nose and flat facial profile.    


Image 3 and pathologic correlation:
  the fingers are flexed and fixed.  


Image 4 and pathologic correlation:  The toes are hyper-flexed and fixed. This 3D image is well correlated to the postnatal appearance.    


Images 5-8: 
Fetal face demonstrating the eclapion, the ectropion, the flat facial profile and the tongue protrusion.


The severest form of congenital icthyosis is harlequin icthyosis8.

Harlequin icthyosis which is often lethal sets on the upper end of the spectrum of severity of
keratinizing disorders
manifested by thick keratin skin layer, dense scales all over the body with several contraction abnormalities which is evident
in eyes, ears and mouth1.

The skin is fissured and divided into polygonal plaques resembling the costume of archetypal harlequin; hence comes the 
name of the disease2.
It is believed to have autosomal recessive inheritance pattern 1. Autosomal dominant inheritance has 
also been described 3. Prenatal sonographic diagnosis has been done by skin biopsy 3,4. 2D sonography 2, 3D-4D
sonography 5,6 and amniotic fluid cytology can also be very helpful 3.


1.Hovnanian A. Harlequin icthyosis unmasked: a defect of lipid transport. The Journal of Clinical Investigation 2005; 115(7):1708-10.

Mihalko M, Lindfors KK, Grix AW, Brant WE, McGahan JP. Prenatal sonographic diagnosis of harlequin icthyosis. AJR 1989; 153:827-8.

Suzumori K, Kanzaki T. Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases. Prenat Diagn 1991; 11(7):451-7. 

Elias S, Mazur M, Sabbagha R, Esterly NB, Simpson JL. Prenatal diagnosis of harlequin ichthyosis. Clin Genet 1980; 17(4):275-80.

Kudla MJ, Timmerman D. Prenatal diagnosis of harlequin ichthyosis using 3- and 4-Dimensional sonography.

Vohra N, Rochelson B, Smith-Levitin M. Three dimensional sonographic findings in congenital (harlequin) icthyosis. J Ultrasound Med 2003 22:737 739.

Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009 Jun;129(6):1319-21.

8. Murphy-Brown L, Vella JA, Lawlor-Klean P. Harlequin ichthyosis: a case study. Neonatal Netw (Abstract) 2004 May-Jun; 23(3):7-12.

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