Harlequin Ichthyosis – A Case Report

Mohammad Basir Uddin¹, Shariar Hussain Chowdhury², Sharmin Bakth³, Mehedi Jafrin⁴, Subrata Baidya⁵, Rehnuma Binte Hai⁶

1. Professor, Department of Paediatrics, North East Medical College and Hospital, Sylhet
2. Principal and Professor, Department of Dermatology, North East Medical College and Hospital, Sylhet
3. Consultant, Department of Paediatrics, North East Medical College and Hospital, Sylhet
4. Registrar, Department of Paediatrics, North East Medical College and Hospital, Sylhet
5. Registrar, Department of Neonatal Intensive Care Unit, North East Medical College and Hospital, Sylhet
6. Registrar, Department of Paediatrics, North East Medical College and Hospital, Sylhet

Abstract
Harlequin ichthyosis (HI) is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. Incidence is about 1 in 300,000 live births. It is autosomal recessive disorder with mutation in ABCA12 (Adenosin-triphosphate-binding cassette A12) gene. Genetic counseling and mutation screening of this gene should be considered in patients who are at risk. Death usually occurs within first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal intensive care and early introduction of retinoids, survival rate has been increased.

Key Words: Ichthyosis

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