Abstract

Harlequin ichthyosis is associated with high morbidity and mortality in the past. However, fetal DNA analysis, 3 D facial antenatal ultrasound, and fetal skin biopsy significantly improved the diagnostic capabilities. The current advancement in treating these babies in level 3 neonatal intensive care units with a multidisciplinary team approach and early use of oral retinoids such as Acitretin, have made the outcomes better recently. Genetic counselling and prenatal screening are of vital importance after the birth of a baby with HI. In conclusion, it is necessary for the practicing clinicians to be aware of this diagnosis and the current management protocols if they come across a similar case.

Keywords: Harlequin ichthyosis, Amniocentesis, Retinoids

Abbreviations: HI: Harlequin ichthyosis, U/S: Ultrasound.

Citation: Guntreddi G, Nair JV, Nirujogi SP. What’s your diagnosis? Harlequin ichthyosis. J Clin Images Med Case Rep. 2021; 2(2): 1024.

Short report

A preterm male neonate born at 36 weeks of gestation to a primigravida mother, of South Indian descent with no prenatal care, no consanguinity was admitted to the NICU due to striking morphological features (Fig 1). The child appeared to be encased in armor-like plates of keratotic scales separated by deep red fissures. The face had the characteristic morphological appearance with severe eversion of the eyelids (ectropion), eversion of the lips (eclabium), flattened nose and deformed ears, generalized flexion contractures, deformed digits (Fig 2)(1). A clinical diagnosis on Harlequin ichthyosis was made, which is the most severe type of congenital ichthyosis with an incidence of about 1 in 300,000 births. The mode of inheritance is autosomal recessive with mutation in the lipid transporter adenosine triphosphate binding cassette A12 (ABCA 12) located on chromosome 2. Trans epidermal fluid loss, respiratory failure, electrolyte imbalance, and infections are the common complications. Despite of the optimal intensive care support, our patient died on Day 4 of life.

Harlequin ichthyosis is typically a clinical diagnosis in affected newborns. Fetal diagnostic modalities include fetal DNA analysis, ultrasound mostly 3 D, fetal skin biopsy. Fetal DNA analysis can be offered to parents who had a previous childbirth with HI. Fetal DNA can be obtained from chorionic villous sampling or amniocentesis (2). Prenatal U/S may show signs highly suggestive of eclabium, ectropion, rudimentary ears, contractures, and dense floating particles in amniotic fluid (snowflake sign) (3). Management of HI babies are always complex and must be in level 3 NICU with multidisciplinary team approach including neonatology, dermatology, genetics, ophthalmology, ENT, plastic surgery, orthopedics, skilled nursing and Occupational and physical therapy. High humidity (50 to 70%) incubator care (4), nutritional support through umbilical/ PICC lines, liberal use of bland emollients applied at frequent intervals, and application of lubricant ophthalmic ointments (Lacrilube) (5) are mainstays of management of affected newborns. Early use of oral retinoids became the standard care of the management of HI. Retinoid treatment should be initiated with in first 7 days of life is for all infants who can tolerate the medication. The current literature suggests that the oral retinoid Acitretin dose be between 0.5 to 1 mg/kg/day (6). Retinoids are typically able to be discontinued by 6 months of age. Harlequin ichthyosis is associated with high morbidity and mortality in the past. The current advancement in treating these babies in level 3 neonatal intensive care units with a multidisciplinary team approach and early use of oral retinoids such as Acitretin, have made the outcomes better recently. Genetic counselling and prenatal screening are of vital importance after the birth of a baby with HI. In conclusion, it is necessary for the practicing clinicians to be aware of this diagnosis and the current management protocols if they come across a similar case.

References

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