(Last Updated On: October 30, 2018)

Authors: Charlene Louise J. Palafox, MD, Maria Jasmin J. Jamora, MD, FPDS

Abstract

Introduction: Harlequin Ichthyosis (HI) is a rare type of Autosomal Recessive Congenital Ichthyosis associated with poor survival. Clinically the diagnosis can be made for their distinct appearance characterized by diffuse epidermal hyperkeratinization and defective desquamation.

Case summary: A female neonate born to a 19-year old G1P1 (1001) preterm at 32 weeks AOG via normal spontaneous delivery weighing 1800g with an uneventful pregnancy. Upon birth, patient had a membranous with thickened skin, large plate-like scaling with fissures, ectropion of both eyes, eclabium of lips and absence of pinnae. There were hypoplasia of the fingers and toes and joint contractures of the elbows, knees, and fingers. Clinically, the patient was diagnosed as a case of Harlequin Ichthyosis. She was brought to the Neontal ICU and managed with antibiotics. There was no suggestion for retinoid treatment. Surgery just advised for observation and autoamputation of extremities. Patient was sent home and due to lack of effective communication was lost to follow-up. They followed-up at another hospital where patient was seen for the first time. The family was advised to have retinoid therapy but still the family refused. She had several complications which eventually led to her demise.

Conclusion: An accurate diagnosis is essential for effective medical management. Nevertheless, there are cases wherein diagnosis is not enough. Aggressive management may be needed and is best achieved by a strong communication between the medical team and the patient’s family.

 

Citation

 

Keywords

Harlequin ichthyosis, Congenital ichthyosis, Epidermal hyperkeratinization

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