Affiliations:  Cairo Fetal Medicine Unit , Egypt. Cairo Fetal Medicine Unit , Egypt.
Email correspondence: mahmoudalalfy@ymail.com

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, joint stiffness and immobility, fixed flexed upper and lower extremities, bilateral clenched hands, and bilateral talipes ectovarus. Additional findings included polydactyly in the feet, echogenic amniotic fluid, polyhydramnios and mild hyperechogenic bowel.

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, wide open mouth with protruded tongue.  Additionally, there was a flat facial profile with flat nose and thick wrinkled  skin.

Ultrasonography of the brain demonstrated triventriculomegaly  with dilated posterior horns of both lateral ventricles measuring 14mm and dilated third ventricle measuring 7mm. The cerebellum was hypoplastic with vermian agenesis, as well as dandy walker malformation with dilated cistern magna.

As the patient had a family history of two previously affected infants, the diagnosis of HI was based on fetal skin biopsies under fetoscopy. The patient was counseled regarding the poor prognosis, and subsequently elected to terminate the pregnancy 3 weeks  later.

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

Discussion

Synonyms:  Harlequin ichthyosis (HI) is also known as Icthyosis congenital gravior , harlequin fetus , Icthyosis fetalis , Icthyosis congenital Keratosis diffusa fetalis.

Introduction:  Harlequin icthyosis is a rare and fatal genetic condition affecting the skin. It is the severest form of Icthyosis.

Etiology: It is an autosomal recessive condition and 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 .

Presentation: 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 do not survive after the first few days of life [1].

History: The first case of prenatal diagnosis of HI was reported in 1983 [2].

Diagnosis: With a family history of previously affected infants, the diagnosis can be made 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].

Sonographic findings: Since that time, 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].

References

[1] Plocoste V, Bonneau D, Deshayes M, et al. Le syndrome du bebe arlequin. J Gynecol Obstet Biol Reprod 1992;21:247e50.

[2] Blanchet-Bardon C, Dumez Y, Labbe´ F, et al. Prenatal diagnosis of harlequin fetus. Lancet 1983;8316:132.

[3] Mihalko M, Lindfors KK, Grix AW, et al. Prenatal sonographic diagnosis of harlequin ichthyosis. AJR Am J Roentgenol 1989;153:827e8.