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 3^rd and 5^th 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, surface 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.

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.

References

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

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

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

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

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

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

7. 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.