Early Acitretin Therapy in a Patient With Harlequin Ichthyosis
Issued Date
2026-01-01
Resource Type
eISSN
27686566
Scopus ID
2-s2.0-105034555942
Journal Title
JEADV Clinical Practice
Rights Holder(s)
SCOPUS
Bibliographic Citation
JEADV Clinical Practice (2026)
Suggested Citation
Sukmark O., Wongkittichote P., Wittayakornrerk S. Early Acitretin Therapy in a Patient With Harlequin Ichthyosis. JEADV Clinical Practice (2026). doi:10.1002/jvc2.70321 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/116051
Title
Early Acitretin Therapy in a Patient With Harlequin Ichthyosis
Author(s)
Author's Affiliation
Corresponding Author(s)
Other Contributor(s)
Abstract
Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities. We describe a preterm male infant, who presented with classical features of HI, including ectropion, eclabium, and digital contractures with distal digital ischemia. He was managed with intensive supportive care and started on oral acitretin (0.5 mg/kg/day) on day five of life, resulting in marked improvement and resolution of distal digital ischemia within 1 week, successfully avoiding surgical intervention. At 1 year of age, he remains clinically stable on maintenance acitretin, exhibiting appropriate growth and meeting developmental milestones.