Related Experiment Video
Updated: Jan 7, 2026
Isolation of Neonatal Extrahepatic Cholangiocytes
Published on: June 5, 2014
Harlequin Ichthyosis in a Preterm Neonate: A Case Report
Alexandra Maria Ulmeanu1, Diana Maria Damian1, Roxana Maria Nemes2
1Neonatology, Regina Maria Hospital, Bucharest, ROU.
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.
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.
