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Year : 2016  |  Volume : 17  |  Issue : 2  |  Page : 154-156

Harlequin baby: A rare clinical entity

Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, Kolkata, West Bengal, India

Date of Web Publication30-Mar-2016

Correspondence Address:
Shibani Pal
No. 67, Iswar Gupta Road, Flat - B, 2nd Floor, Kolkata - 700 028, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.172475

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How to cite this article:
Pal S, Sarkar S, Patra C, Bandyopadhyay A. Harlequin baby: A rare clinical entity. Indian J Paediatr Dermatol 2016;17:154-6

How to cite this URL:
Pal S, Sarkar S, Patra C, Bandyopadhyay A. Harlequin baby: A rare clinical entity. Indian J Paediatr Dermatol [serial online] 2016 [cited 2020 Oct 21];17:154-6. Available from: https://www.ijpd.in/text.asp?2016/17/2/154/172475


Harlequin ichthyosis (HI) is one of the severe forms of genodermatoses having an ominous prognosis. Herein, we outline a case of neonate with HI for its rarity and briefly review the literature.

A 32-week-old preterm male baby born by normal vaginal delivery was referred to our neonatal care unit due to striking dysmorphism and dermatological abnormalities. Birth weight was 1950 g. The proband was third issue born to second-degree consanguineous parents. History revealed that the couple had lost previous two offsprings in the neonatal period with a similar disorder. However, the antenatal period was uneventful in each of the pregnancies.

On physical examination, skin was found to be hard, thickened, waxy and yellowish in color. It was split irregularly to reveal erythematous moist fissures [Figure 1]. The ears were crumpled. There were severe ectropion and eclabium. He had difficulty in sucking due to persistent opening of the mouth. There were micropenis, undescended testes, and rudimentary scrotum. The limbs were edematous with small hands and feet having circumferential constriction bands around. The nails were hypoplastic. No other systemic abnormalities were noted.
Figure 1: Baby showing hard, thickened, waxy and yellowish skin, split irregularly to reveal erythematous moist fissures

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The baby was nursed under a radiant warmer. Appropriate fluid therapy was started. Nasogastric tube feeding started initially within a 2nd day of life. He was prescribed emollients for his skin lesions and put on broad-spectrum systemic antibiotics. Gradually, plate-like scales peeled off revealing glazed erythematous skin underneath. However, on the 5th day of life baby expired due to respiratory failure.

HI is a rare autosomal recessive disorder.[1] It is characterized by erythrodermic ichthyosis. Incidence is 1 in 1 million births.[2] It is characterized by thickening of the keratin layer in the fetal human skin.[3] Affected newborns have thickened, hard, “armor” like and hyperkeratotic skin with deep fissures most prominent over areas of flexion and waxy plate like scaling over the entire body. It is caused by mutations of adenosine triphosphate binding cassette A12 (ABCA12) gene, resulting in defective lipid transport, significantly interfering with the normal development of the skin barrier.[4]

HI was first recorded by Oliver Hart in 1750. Since then it has been referred to as “fetal ichthyosis, “keratosis diffuse fetalis,” “congenital diffuse malignant keratoma,” “alligator baby” etc.[5] This disorder has a devastating prognosis. The skin is easily pregnable by bacteria resulting in infection. Fluid loss and respiratory failure are other causes of increased mortality.

Most cases with negative family history are diagnosed clinically after birth. Prenatal diagnosis remains difficult, but direct sequence analysis of ABCA12 mutation from amniotic fluid and three-dimensional ultrasonography revealing fetal foot length shorter than femur length in the second trimester has created a new horizon for earlier diagnosis.[6]

Collodion baby may have similar physical features, but thin shining layer without any fissures clearly enables the clinician to make the differentiation.

Management of Harlequin baby needs a multidisciplinary approach. Most die in the perinatal period due to feeding problem, infection, and respiratory failure. Recently some of the affected neonates are surviving beyond neonatal period with the aid of proper hydration, maintenance of asepsis and usage of emollients and an oral retinoid.

Abnormal appearance of the baby makes them subject of neglect and adversely affects the psyche of the parents. With a history of consanguinity and recurrence in other sibs, we emphasize on genetic counseling. Through our case, we highlight the need for fetal skin biopsy in subsequent pregnancies in high-risk families to save it from having yet another baby with this potentially lethal disorder.

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of Interest

There are no conflicts of interest.

  References Top

Akiyama M. Severe congenital ichthyosis of the neonate. Int J Dermatol 1998;37:722-8.  Back to cited text no. 1
Layton J. A review of harlequin ichthyosis. Neonatal Netw 2005;24:17-23.  Back to cited text no. 2
McLean WH, Judge MR, Munro CS. Disorders of keratinisation. In: Burns T, Breathrach S, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology. 7th ed., Vol. 2, 34. Hoboken: Blackwell Publication 2004. p. 23-6.  Back to cited text no. 3
Akiyama M, Dale BA, Smith LT, Shimizu H, Holbrook KA. Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. Prenat Diagn 1998;18:425-36.  Back to cited text no. 4
Darmstadt GL. Disorders of keratinisation. In: Behrman Kliegman RM, Arvin AM, Nelson WE, editors. Textbook of Paediatrics. 15th ed. Philadelphia: WB Saunders Company; 1996. p. 1869-73.  Back to cited text no. 5
Suresh S, Vijayalakshmi R, Indrani S, Lata M. Short foot length: A diagnostic pointer for harlequin ichthyosis. J Ultrasound Med 2004;23:1653-7.  Back to cited text no. 6


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