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Daisy Deuri, Speaker at Dermatology Conferences
AIIMS Bathinda, Punjab, India
Title : Shrouded in scales – A harrowing case of harlequin ichthyosis


Introduction: Harlequin ichthyosis (HI) is a severe and fatal presentation of ichthyosis with an autosomal recessive inheritance. Infants with Harlequin ichthyosis have a high mortality rate, majority of neonates die shortly after birth from infection, heat loss, dehydration, electrolyte imbalances, or respiratory distress. Here we report a case of Harlequin Ichthyosis as it is a rare disorder and not frequently seen.
Description of the case: A newborn baby, born to 2nd degree consanguineous marriage, presented with “armour-like” thick, whitish–yellow plates of scales with deep red fissuring. Eyelashes and eyebrows were missing with ectropion, eclabium, and flattening of the ears and nose were noted. A clinical diagnosis of Harlequin ichthyosis was made. Due to a lack of facility, a mutation analysis was not carried out. The patient was then transferred to the neonatal intensive care unit (NICU) and treated in a humidified incubator and medicated with intravenous antibiotics, topically emollients and fusidic acid were given. The patient unfortunately died at the age of 2 days mostly due to respiratory failure, fluid loss and septicemia.
Discussion: Harlequin ichthyosis (HI) is very rare and the most severe form of congenital ichthyosis presenting at birth with autosomal recessive inheritance. It is due to mutations in ABCA12 gene encoding an adenosine triphosphate-binding cassette (ABC) transporter. The affected newborn is encased in “armour-like” thick, white–yellow plates of scales with deep red fissuring. The skin is stretched tightly, the face loses its normal appearance with ectropion, eclabium and flattening of ears and nose. Eclabium and taut facial skin prohibit suckling by the infant. The extremities are swollen due to constriction by massive thickening of skin which can eventually lead to auto-amputation. Complications include hypernatremia, heat intolerance, joint contractures, sepsis, delayed growth and development, erythroderma and painful palmoplantar keratoderma. Differential diagnosis include Neu–Laxova syndrome which presents with taut, scaling skin and features of microcephaly, syndactyly and other congenital malformations. Mortality is mostly due to respiratory, infectious, hypoglycemic and dehydration. Treatment includes intensive care to provide sufficient nutrition, monitor and manage body temperature, correct fluid and electrolyte imbalances and treat respiratory dysfunction, pneumonia, or sepsis. Infants should be kept in humidified incubators and treated topically with light emollients. Systemic retinoids like acitretin (1 mg/kg/day) helps in shedding of the large, keratotic plates within weeks as well as improvement of the ectropion and eclabium. Although it is a rare disorder, mutation screening for the ABCA12 gene and genetic counselling for families, particularly those with consanguinity marriages would be beneficial, so that early diagnosis can be made and managed effectively.


Dr. Daisy Deuri graduated from Vydehi institute of Medical Sciences and Research Centre, India in 2018 and did her MD in Dermatology from SSIMS&RC, India in 2023. She is now currently working as Senior Resident in AIIMS Bathinda. She has participated in many Continuing Medical Education (CME) events, seminars and did many paper and poster presentations in both national and international conferences. She has 3 publications and has won various awards. She has passion for teaching for the under graduate and post graduate students. Her areas of interest are dermatosurgery, vitiligo and leprosy.