Search Term

Section

Search Cases

Advanced Search

Area of Interest

Procedure

Technique

Special Focus

Case Type

Country

Language

Case Title

Author

Case Number

Harlequin ichthyosis - Prenatal diagnosis with two- and three-dimensional ultrasound at 30 weeks

Author(s)

Anjana Trivedi¹, Anirudh Chawla¹, Jagruti Kalola, Maulik Jethva

Civil Hospital,
P.D.U. Medical College;
Jamnagar Road
360001 Rajkot, India;
Email:anirudhchawla@gmail.com

Patient

female, 23 year(s)

Clinical History

A 25-year-old woman with no significant past history was referred for her first antenatal ultrasound at 30 weeks gestational age. Two- and three-dimensional ultrasonography was done. She delivered preterm by spontaneous normal vaginal delivery at 32 weeks. The neonate expired immediately after delivery.

Imaging Findings

Two- and three-dimensional sonography was performed. Fetal biometry corresponded with a gestational age of 30 weeks. Amniotic fluid was normal. The fetus showed abnormal facial features with a flat nose, a persistently open mouth in a fish-mouth-like configuration with protruding tongue, bilateral flattened rudimentary external ears, and hypoechoic mass lesions in front of each globe. Three-dimensional surface rendered images of the fetal face showed cracks in the skin. The fingers and toes were seen to be persistently in flexed position. No associated visceral anomaly was seen and rest of the ultrasound examination was normal.

Post-natal evaluation confirmed the ultrasound findings. Tiger stripes appearance of skin was noted with cracks in skin. Bilateral ectropion was noted presenting as swelling over each globe. Flat nose, flattened rudimentary ears, and open mouth in a fish-mouth-like configuration with protruding tongue was noted. Fingers and toes were flexed.

Discussion

Harlequin ichthyosis is a rare and lethal form of congenital ichthyosis. At birth, a newborn infant with harlequin ichthyosis has thickened, yellow-coloured, armour-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, wide open mouth with the infant not being able to suck properly. The nose and ears are hypoplastic. The newborn appears to be encased in a tight, parchment-like membrane, which allows little movement and holds the limbs in a semiflexed position [1].

The first case of prenatal diagnosis of harlequin ichthyosis was reported in 1983 by Blanchet-Bardon et al [2]. The diagnosis was based on fetal skin biopsies under fetoscopy. However, the use of this traumatic method for prenatal diagnosis is limited to pregnant women with a previously affected child. The first case of prenatal sonographic diagnosis of harlequin ichthyosis was reported by Mihalko et al in 1989 [3].

Despite specialized treatment, death generally occurs within the first weeks of life due to skin infection. With close monitoring of skin and eyes, and treatment with vitamin A, survival has been prolonged [4].

Prenatal sonographic features of this condition have been described. The principal signs suggestive of harlequin fetus are absence of typical ear morphology, atypical facial dysmorphism, large open mouth, absence of typical nasal morphology, partitioned cystic formations in front of the eyes, thick skin, minimal fetal movement with stiff limbs in a semiflexed position, limb anomalies with hypoplastic fingers and toes and short phalanges, clubfoot, shriveled hands that do not open, hyperechogenic amniotic fluid, and an absence of associated visceral anomalies. The earliest sonographic diagnosis by three-dimensional ultrasound was at 22 weeks, in a second pregnancy after a first pregnancy with the same condition. In that case a scan was done at regular intervals of 15 days from early pregnancy [5]. In a seemingly normal pregnancy the earliest diagnosis was at 30 weeks [5, 6].

In conclusion, three-dimensional ultrasound can accurately diagnose congenital harlequin ichthyosis obviating the need to do fetal skin biopsy under fetoscopy. This is particularly important since it allows an antenatal diagnosis in patients with no past history of harlequin fetus.

Final Diagnosis

Differential Diagnosis List

References

[1]

Plocoste V1, Bonneau D, Deshayes M, de Giacomoni P, Kibler MP, Berthier M, Magnin G. (1992) The Harlequin Baby syndrome. A new case.. J Gynecol Obstet Biol Reprod (Paris). 1992;21(2):247-50.
[2]

Blanchet-Bardon C, Dumez Y, Labbé F, Lutzner MA, Puissant A, Henrion R, Bernheim A. (1983) Prenatal diagnosis of Harlequin fetus.. Lancet 1983 Jan 15;1(8316):132.
[3]

Mihalko M1, Lindfors KK, Grix AW, Brant WE, McGahan JP. (1989) Prenatal sonographic diagnosis of harlequin ichthyosis.. AJR Am J Roentgenol. 1989 Oct;153(4):827-8.
[4]

Roberts LJ (1989) Long-term survival of a harlequin fetus.. J Am Acad Dermatol. 1989 Aug;21(2 Pt 2):335-9.
[5]

Bongain A1, Benoit B, Ejnes L, Lambert JC, Gillet JY (2002) Bongain A1, Benoit B, Ejnes L, Lambert JC, Gillet JY. Ultrasound Obstet Gynecol. 2002 Jul;20(1):82-5.
[6]

Benoit B (1999) Three-dimensional ultrasonography of congenital ichthyosis.. Ultrasound Obstet Gynecol. 1999 May;13(5):380

Citation

Anjana Trivedi¹, Anirudh Chawla¹, Jagruti Kalola, Maulik Jethva (2016, Jun 22).

Harlequin ichthyosis - Prenatal diagnosis with two- and three-dimensional ultrasound at 30 weeks, {Online}.

URL: http://www.eurorad.org/case.php?id=13759

DOI: 10.1594/EURORAD/CASE.13759

ISSN: 1563-4086

Public License

This work is licensed under the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

To top

Print this case Download as PDF Bookmark this case

Published 22.06.2016
DOI 10.1594/EURORAD/CASE.13759
Section Paediatric Radiology
Case Type Clinical Cases
Views 3528
Language(s)

Figure 1
Facial profile- Sagittal 2D ultrasound

Flattened nose is noted in mid-sagittal section of face.

Area of Interest: Ear / Nose / Throat; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
Figure 2
Ultrasound axial section just above globes

Axial sonogram just above globes shows hypoechoic mass anterior to each globe.

Area of Interest: Eyes; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
Figure 3
Ultrasound coronal section through lips

Mouth is persistently open with thick lips and rounding of angles of the mouth.

Area of Interest: Foetal imaging; Head and neck; Soft tissues / Skin; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
Figure 4
Ultrasound coronal section through pinna

Flattened rudimentary external ear is noted.

Area of Interest: Ear / Nose / Throat; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
Figure 5
Three-dimensional ultrasound of fetal face

a

Dr. Anirudh Chawla, Department of Radiology, P.D.U. Medical College, Rajkot

b

Dr. Anirudh Chawla, Department of Radiology, P.D.U. Medical College, Rajkot

Three-dimensional sonogram of fetal face shows persistently open mouth with thick lips and flat nose.

Area of Interest: Ear / Nose / Throat; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;

Three-dimensional sonogram of fetal face shows persistently open mouth with thick lips, flat nose and bilateral orbital swellings.

Area of Interest: Ear / Nose / Throat; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
Figure 6
Three-dimensional ultrasound of fetal face

a

Dr. Anirudh Chawla, Department of Radiology, P.D.U. Medical College, Rajkot

b

Dr. Anirudh Chawla, Department of Radiology, P.D.U. Medical College, Rajkot

Three-dimensional sonogram of fetal face shows bilateral orbital swellings, flat nose, thick lips with rounding of angle of mouth and flat rudimentary ear.

Area of Interest: Eyes; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;

Three-dimensional sonogram of fetal face shows bilateral orbital swellings.

Area of Interest: Eyes; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
Figure 7
Three-dimensional surface rendered image of forehead

Three-dimensional surface rendered image of forehead shows a crack in skin of forehead and bilateral orbital swelling.

Area of Interest: Eyes; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
Figure 8
Post-natal photograph of face

A- Surface rendered sonogram of forehead. B- Post-natal photograph of face. Breach is noted in skin. Bilateral orbital swelling, flat nose and open mouth with thick lips are noted.

Area of Interest: Eyes; Soft tissues / Skin; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
Figure 9
Post natal photograph

Tiger stripes appearance of cracked skin is noted. Bilateral ectropion are seen producing a mass over each orbit. Flat nose and open fish mouth are noted.

Area of Interest: Ear / Nose / Throat; Eyes; Soft tissues / Skin; Imaging Technique: PACS; Procedure: History; Special Focus: Congenital; Connective tissue disorders;

Figure 1

Facial profile- Sagittal 2D ultrasound

Flattened nose is noted in mid-sagittal section of face.

Figure 2

Ultrasound axial section just above globes

Axial sonogram just above globes shows hypoechoic mass anterior to each globe.

Figure 3

Ultrasound coronal section through lips

Mouth is persistently open with thick lips and rounding of angles of the mouth.

Figure 4

Ultrasound coronal section through pinna

Flattened rudimentary external ear is noted.

Figure 5

Three-dimensional ultrasound of fetal face

Figure 5a

Three-dimensional sonogram of fetal face shows persistently open mouth with thick lips and flat nose.

Figure 5b

Three-dimensional sonogram of fetal face shows persistently open mouth with thick lips, flat nose and bilateral orbital swellings.

Figure 6

Three-dimensional ultrasound of fetal face

Figure 6a

Three-dimensional sonogram of fetal face shows bilateral orbital swellings, flat nose, thick lips with rounding of angle of mouth and flat rudimentary ear.

Figure 6b

Three-dimensional sonogram of fetal face shows bilateral orbital swellings.

Figure 7

Three-dimensional surface rendered image of forehead

Three-dimensional surface rendered image of forehead shows a crack in skin of forehead and bilateral orbital swelling.

Figure 8

Post-natal photograph of face

A- Surface rendered sonogram of forehead. B- Post-natal photograph of face. Breach is noted in skin. Bilateral orbital swelling, flat nose and open mouth with thick lips are noted.

Figure 9

Post natal photograph

Tiger stripes appearance of cracked skin is noted. Bilateral ectropion are seen producing a mass over each orbit. Flat nose and open fish mouth are noted.

To top

Home Search Sections Teaching Cases History FAQ Case Archives Contact Login Disclaimer Imprint Switch to MOBILE version

Language:

Any Questions? Contact us here:
epc@eurorad.org

EURORAD Office c/o European
Society of Radiology
Am Gestade 1,
AT-1010 Vienna, Austria

View desktop version

Preferred Language: