Work

Early Acitretin Therapy in a Patient With Harlequin Ichthyosis

Year: 2026

Type: article

Abstract: 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.

Source: JEADV Clinical Practice

DOI: 10.1002/jvc2.70321

Authors: Orasa Sukmark, Parith Wongkittichote, Sanchawan Wittayakornrerk

Institutions: Mahidol University, Ramathibodi Hospital

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,310