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| CASE REPORT |
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| Year : 2022 | Volume
: 1
| Issue : 3 | Page : 76-78 |
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An antenatally missed case of harlequin ichthyosis: Report of a rare case and review of literature
Padmapriya Balakrishnan1, Thirunavukkarasu Arun Babu2, Sharmila Vijayan3
1 Department of Pathology, Sri Lakshmi Narayana Institute of Medical Sciences (SLIMS), Puducherry, India
2 Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India
3 Department of OBG, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India
| Date of Submission | 28-May-2023 |
| Date of Acceptance | 02-Jun-2023 |
| Date of Web Publication | 29-Aug-2023 |
Correspondence Address:
Dr. Thirunavukkarasu Arun Babu
Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri 522503, Andhra Pradesh
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/pedc.pedc_16_23
Newborns are particularly susceptible to severe illnesses during the early neonatal period due to various causes. To anticipate congenital diseases in babies before birth and ensure prompt management, it is crucial to gather a detailed medical history, conduct a thorough clinical examination, and perform antenatal ultrasound examinations of the mother. However, certain rare genetic disorders such as harlequin ichthyosis, characterized by thick generalized hyperkeratotic scaling and deep fissuring of the skin, cannot be detected through routine antenatal investigations. This condition often leads to neonatal death in the early days of life and poses significant emotional distress for the parents. We present a case of a newborn displaying symptoms of harlequin ichthyosis who passed away shortly after birth to emphasize the importance of recognizing this condition during the antenatal period, even when routine investigations do not reveal its presence. Keywords: Harlequin ichthyosis, neonate, thick scaly skin, ultrasonogram
How to cite this article:
Balakrishnan P, Arun Babu T, Vijayan S. An antenatally missed case of harlequin ichthyosis: Report of a rare case and review of literature. Pediatr Companion 2022;1:76-8 |
| Introduction | |  |
Neonates are susceptible to various health issues such as sepsis, dehydration, and imbalances in electrolytes and glucose levels during the early neonatal period. These conditions can be anticipated during the antenatal period and, in most cases, these are effectively managed through intensive care after birth. However, infants born with harlequin ichthyosis (HI) experience severe complications in the early days of life, including the aforementioned problems, and despite intensive management, they often do not survive. HI is a rare autosomal recessive disorder characterized by thick scales in a diamond or triangular pattern and deep red fissures in the skin. This condition is caused by a mutation in the ABCA12 gene, which plays a role in regulating lipid transport proteins in the epidermis. The overall incidence of harlequin ichthyosis is extremely low, approximately 1 in 3,000,000 births.[1] It is crucial to diagnose this fatal disorder during the antenatal period to enable early medical termination of pregnancy, if desired by the couple. We present a case of a newborn displaying features of HI who unfortunately passed away in the early days of life. This case highlights the importance of specific investigations for diagnosing this genetic disorder during the antenatal period.
| Case Report | | |
A 22-year-old woman who was pregnant for the first time and at 38 weeks of gestation, as determined by a dating scan arrived at the obstetric casualty department experiencing labor pains. It was noted that the couple was related as second-degree cousins. There were no significant past medical or family history. Antenatal ultrasound and blood tests showed no abnormalities. Fetal parameters were within normal range. The woman had a spontaneous vaginal delivery, giving birth to a male baby weighing 2500 g with a head circumference of 30 cm. The baby exhibited generalized deep fissures in the skin, hyperkeratotic scaling in a diamond pattern, ectropion (eyelid eversion), eclabium (eversion of the lips), poorly formed nostrils, and earlobes [Figure 1]. Additionally, the baby displayed microcephaly, lack of eyebrows, limb hypoplasia, and clenched hands [Figure 2]. The movement of the limbs was restricted due to the presence of hyperkeratotic scales. Considering these clinical features, a diagnosis of harlequin ichthyosis was made. As the baby’s skin was not intact, there was a risk of sepsis, dehydration, and electrolyte imbalance. The baby was placed in an incubator with increased humidity and received intensive care with intravenous fluids and antibiotics. Unfortunately, the newborn passed away after 14 h, despite the intensive care provided. The parents were informed about the nature of this lethal genetic disorder and the challenges associated with prenatal diagnosis. They also received genetic counselling regarding the likelihood of the disorder occurring in future pregnancies. | Figure 1: Clinical photograph showing newborn with features of harlequin ichthyosis such as gross, generalized, thick scales in diamond pattern, deep fissuring of skin, ectropion, eclabium, poorly formed nostrils and ears, lack of eyebrows and microcephaly
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 | Figure 2: Clinical photograph showing clenched hand, contracted wrist joint, hypoplasia of digits and short limb
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| Discussion | | |
Having a family history of HI is significant in suspecting the condition in a developing fetus with parents who are closely related. However, there have been reported cases of HI without any family history, similar to the present case.[2] Newborns with HI require comprehensive neonatal care involving both surgical and medical interventions. The literature mentions various treatment options for HI, including surgeries to release joint contractures, perform fasciotomy, correct ectropion, reconstruct the nose, and apply autologous skin grafts.[3] However, the availability of facilities for such major surgeries and the time required for arrangements are often a challenge in many centers. In the present case, there was no surgical treatment facility, so management involved providing oxygenation, intravenous fluids, artificial feeds, antibiotics, and topical applications of retinoid. Unfortunately, the newborn passed away after 14 h of life due to respiratory failure.
Prenatal suspicion of HI is possible through thorough history-taking and careful 2D and 3D ultrasonographic examination of the fetus. The 2D ultrasonographic features of HI include armor-like skin with increased thickness, short and flattened nasal bones, ectropion, open mouth, clenched hands, polyhydramnios, and floating particles in the amniotic fluid, among others.[4] These features are typically more prominent in the third trimester. Notably, a short foot length of the fetus in the ultrasonogram is a promising feature in the second trimester for suspecting HI.[5] In the present case, the prenatal diagnosis was missed due to a lack of awareness regarding these specific features of HI.
| Conclusion | | |
Harlequin ichthyosis is an uncommon genetic skin disorder characterized by widespread thick scaling and deep red cracks in the skin. It severely impacts organ development as the fetus is encased in a thick, armor-like skin. When dealing with consanguineous couples, taking a thorough medical history may provide clues to suspect this disorder. Prenatal diagnosis can be achieved through meticulous 2D ultrasound examination, specifically looking for features indicative of harlequin ichthyosis. When a prenatal diagnosis is made, medical termination of the pregnancy is typically recommended. Genetic counseling and psychological support for the parents are also advised. Despite intensive management involving a multidisciplinary team, the condition remains lethal.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Shrestha AB, Biswas P, Shrestha S, Riyaz R, Nawaz MH, Shrestha S, et al. Harlequin ichthyosis: A case report and literature review. Clin Case Rep 2022;10:e6709.  |
| 2. | Brandão P, Seco S, Loureiro T, Ramalho C Prenatal sonographic diagnosis of Harlequin ichthyosis. J Clin Ultrasound 2019;47:228-31. |
| 3. | Tsivilika M, Kavvadas D, Karachrysafi S, Sioga A, Papamitsou T Management of harlequin ichthyosis: A brief review of the recent literature. Children (Basel) 2022;9:893. |
| 4. | Zhou Y, Li L, Wang L, Zhang C Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review. BMC Med Imaging 2021;21:56. |
| 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. |
[Figure 1], [Figure 2]
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