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Harlequin Ichthyosis in a Preterm Neonate: A Case Report
Alexandra Maria Ulmeanu1, Diana Maria Damian1, Roxana Maria Nemes2
1Neonatology, Regina Maria Hospital, Bucharest, ROU.
Cureus
|December 29, 2025
Summary
Harlequin ichthyosis, a severe genetic skin disorder, presents significant challenges. This case highlights the critical need for early diagnosis and comprehensive care for affected newborns.
Area of Science:
- Genetics
- Neonatology
- Dermatology
Background:
- Harlequin ichthyosis is a rare, severe autosomal recessive disorder.
- It is characterized by extreme hyperkeratosis and a compromised skin barrier.
- High neonatal mortality rates are frequently associated with this condition.
