Radiol Case Rep. 2024 Sep 12;19(12):5770-5774. doi: 10.1016/j.radcr.2024.08.076. eCollection 2024 Dec.
ABSTRACT
Ichthyosis Prematurity Syndrome (IPS) is a rare autosomal recessive disorder characterized by premature birth, respiratory distress, and distinctive skin abnormalities. Infants with IPS typically present between 30 and 34 weeks of gestation with a thick, caseous, desquamating epidermis resembling vernix caseosa. We report a case of a female neonate born at 30 weeks, weighing 1400 grams, with severe respiratory distress and characteristic skin abnormalities. Immediate intervention, including mechanical ventilation and surfactant therapy, was essential. Histopathological examination revealed hyperkeratosis, parakeratosis, and a thickened stratum corneum, with genetic testing confirming FATP4 gene mutations. Comprehensive care by a multidisciplinary team, including CPAP, emollients, and enteral feeding, led to significant improvement, and the neonate was discharged after 4 weeks. This is the first reported case of IPS in Iraq. This case highlights the importance of early recognition, genetic testing, and a coordinated care approach for managing IPS, emphasizing the need for awareness of its characteristic features to improve patient outcomes.
PMID:39308606 | PMC:PMC11416458 | DOI:10.1016/j.radcr.2024.08.076
