Case Report: Harlequin Ichthyosis

Abstract

Harlequin Ichthyosis (HI) is a rare autosomal recessive congenital ichthysosis, due to mutations in the ABCA12 gene, leading to defects in lamellar granules of stratum granulosum. A clinical diagnosis was estabilish based on typical features of Harlequin Ichthyosis (HI), armorlike plates of scale and deep fissures. Harlequin Ichthyosis (HI) has a high mortality rate. Case: We reported a baby girl aged one day with yellowish scales and cracked skin since birth. Examination revealed eclabium, ectropion, and agenesis of the fingers and toes. The management of Harlequin Ichthyosis (HI) requires a supportive care, including the treatment in the incubator with NGT inserted, gentamicin eye ointment, sterile eye drops, gentamicin ointment, NaCl 0,9% dressing and emollient (olive oil). The patient died on the 8th day of treatment. Discussion: Supportive care was given to the patient. But the management was not optimal due to the difficulties in maintaining peripheral venous system access for the provision of systemic therapy, and laboratory examination. And moreover, the unavailability of systemic retinoid worsened the condition. The patient died on the 8th day of treatment due to respiratory failure and leading to sepsis. Conclusion: A clinical diagnosis was estabilish based on typical features of Harlequin Ichthyosis (HI) in this case. The failure in maintaining peripheral venous system access and the unavailability of systemic retinoid worsened the prognosis of this patient.