A Malagasy Case Report of Harlequin Ichthyosis

Introduction: Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. It is caused by mutations in the IABCA12/I gene, leading to a major defect in epidermal lipid transport and a profound impairment of the skin barrier. The estimated incidence ranges from 1 in 300,000 to 1 in 1,000,000 live births. Clinically, affected neonates present at birth with thick hyperkeratotic plates separated by deep fissures, associated with bilateral ectropion, eclabium, and limb contractures. Despite advances in neonatal intensive care and the introduction of systemic retinoids, mortality remains high. We report here a case of harlequin ichthyosis observed in Madagascar. Case presentation: We report the case of a full-term newborn, the first child of a 15-year-old mother, delivered vaginally with a birth weight of 2540 g. A first-trimester prenatal ultrasound was reported as normal. No parental consanguinity was known. At day 0 of life, physical examination revealed massive generalized hyperkeratosis with large thick plates separated by deep erythematous fissures, giving the skin an “armor-like” appearance. Marked bilateral ectropion, eclabium, nasal flattening, dysmorphic auricles, and limb contractures were also observed. The newborn was admitted to the neonatal intensive care unit. Supportive care including topical emollients, correction of hydro-electrolytic disturbances, and infection prevention was initiated. Systemic retinoids could not be introduced. By day 4 of life, increased skin rigidity, widening of the fissures, and distal dark discoloration of the extremities suggestive of ischemic compromise were observed. The clinical course was marked by death at day 6 of life. Discussion: Harlequin ichthyosis results from impaired lipid transport caused by IABCA12/I mutations, leading to severe disruption of the stratum corneum and skin barrier function. Prenatal diagnosis by ultrasound is possible but remains difficult and is often made late in pregnancy. The unfavorable outcome in our case highlights the challenges in managing this condition in resource-limited settings. Conclusion: Harlequin ichthyosis remains a severe neonatal emergency. Early recognition, prompt supportive care, and specialized multidisciplinary management are essential to improve prognosis.