Harlequin Ichthyosis: Experience with a short-course Oral Vitamin A as a potential adjunct therapy in low-resource settings
Abraham Kwadzo Ahiakpa1
, Elorm Kwaku Kpofo-Tetteh2, Gerald Amprofi2, Precious Akosua Raphaelson3, Magdalene Dede Appiah3, Dorothy Sackey3
1Catholic Hospital, Battor, Internal Medicine And Pediatrics, Battor, Ghana
2Catholic Hospital, Battor, Obstetrics And Gynecology, Battor, Ghana
3Catholic Hospital, Battor, Pediatrics, Battor, Ghana
Keywords: Harlequin ichthyosis, Ichthyosis, Vitamin A, Retinoid, low-resource.
Abstract
Harlequin Ichthyosis (HI), the most severe form of congenital ichthyosis, has evolved in management, leading to improved outcomes. However, these outcomes may be impacted by resource availability. Based on published reports, we report, the first case of HI in Ghana, our management challenges and the potential benefit of short-course vitamin A as a potential adjunct therapy in resource-constrained settings. We report a male neonate delivered at 35weeks+3days gestation to a 20-year-old primiparous mother. Physical examination revealed generalized thick, grey scaly skin with diamond shapes interspersed with deep fissures, accompanied by facial and limb dysmorphic features. Supportive care was provided in the Neonatal Intensive Care Unit (NICU), including skin care, a 7-day course of low-dose oral vitamin A, and antibiotics. The infant was discharged in a stable state to parents upon a request of discharge against medical advice from parents. However, the infant died at home, of unclear cause, on day 12 of life. Systemic retinoids have considerably improved HI management outcomes in high resource settings. We propose that vitamin A could be a potential adjunct therapy in low-resource settings. This case lays a platform for more robust studies in the future to explore this finding.
Cite this article as: Ahiakpa AK, Kpofo-Tetteh EK, Amprofi G, Raphaelson PA, Appiah MD, Sackey D Harlequin Ichthyosis: Experience with a short-course Oral Vitamin A as a potential adjunct therapy in low-resource settings. Pediatr Acad Case Rep. 2025;4(3):58-62.
The parents’ of this patient consent was obtained for this study.
The authors declared no conflicts of interest with respect to authorship and/or publication of the article.
The authors received no financial support for the research and/or publication of this article.