FINDINGS IN A CASE OF HARLEQUIN ICHTHYOSIS IN A NEONATE: A CASE REPORT AND REVIEW OF DIGNOSTIC CRITERIA

Megahed, Haidy Mostafa; Zein‐Elabdin, Hisham; Ghanem, Maha A

doi:10.21608/ejfsat.2025.368264.1368

FINDINGS IN A CASE OF HARLEQUIN ICHTHYOSIS IN A NEONATE: A CASE REPORT AND REVIEW OF DIGNOSTIC CRITERIA

Document Type : Case Reports

Authors

¹ Faculty of medicine alexandria university

² Forensic Medicine Corporation and Forensic Medicine and Clinical Toxicology Faculty of Medicine, University of Science and Technology, Omdurman, Sudan

³ Faculty of Medicine, ,Alexandria University

10.21608/ejfsat.2025.368264.1368

Abstract

ABSTRACT:
Introduction: Harlequin ichthyosis (HI) is a rare autosomal recessive congenital disorder caused by mutations in the ABCA12 gene, which is crucial for lipid transport and skin barrier function. The estimated incidence is approximately 1 in 300,000 births. HI is characterized by severe hyperkeratosis, leading to thick, plate-like scales separated by deep fissures. Infants with HI are at high risk for complications such as dehydration, infection, and respiratory distress.
Case presentation: This case report describes a newborn female with multiple congenital anomalies, including natal teeth, lustrous skin, left anophthalmia, right ectropion, eclabium, absence of eyebrows and eyelashes, and rudimentary nose and ears. She passed away two hours after birth. An autopsy and dental examination were performed at the Al-Khartoum morgue in Sudan to determine the cause of death and confirm the clinical diagnosis. External examination confirmed the findings and internal examination revealed mainly lung edema. The rarity of HI, with only 300 cases reported in the medical literature, combined with the presence of natal teeth, makes this case particularly unique.
Conclusion: this case highlights the presence of multiple congenital anomalies, including natal teeth and severe skin changes and pulmonary hypoplasia, which contributed to the infant's poor prognosis and death due to acute respiratory failure. The diagnosis of HI is primarily based on physical examination and histological evaluations, with confirmation through genetic testing for loss-of-function mutations in the ABCA12 gene. Although genetic testing was not feasible in this case due to limitations caused by the ongoing war, the severity of the findings strongly supported an HI diagnosis, even in the absence of genetic testing.

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