Work

Harlequin Ichthyosis in a Preterm Neonate: A Case Report

Year: 2025

Type: article

Abstract: Harlequin ichthyosis is a rare autosomal recessive disorder characterized by severe hyperkeratosis and impaired skin barrier function, often associated with high neonatal mortality. We present the case of a preterm neonate born by cesarean section at 32 weeks of gestation with classical features of Harlequin ichthyosis, confirmed by genetic testing. Despite intensive neonatal and dermatologic management, the patient developed multiorgan complications and died on the 30th day of life. This report emphasizes the importance of early diagnosis, supportive care, and genetic counseling for affected families.

Source: Cureus

DOI: 10.7759/cureus.97912

Authors: Alexandra Maria Ulmeanu, Diana Maria Damian, Roxana Maria Nemes, Cristina Aurelia Ionita

Institution: Titu Maiorescu University

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: diamond

OpenAlex ID: W4416767323