A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings

Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low- and middle-income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care. We present a 37-week neonate born to a diabetic mother from a consanguineous marriage with a background of HI-related neonatal mortality. The child had classical manifestations of HI in the form of hyperkeratotic armor-like plates, eclabium, ectropion, and limb contractures. Oral acitretin was started at 1.1 mg/kg/day along with intensive supportive care but the neonate had become septic and succumbed on day nine despite multi-antibiotic therapy, intravenous fluid resuscitation, and oral retinoid therapy. There was mild dermatological improvement with retinoid therapy but systemic improvement was not observed. Antenatal diagnosis was not made because of poor prenatal care and religious reluctance. On record, the present case is the first reported one for our region showing a likely association between maternal diabetes and high HI severity because epigenetic studies suggest that hyperglycemia may alter fetal gene expression, particularly in pathways related to cell adhesion and barrier function. The case highlights the intersection of maternal comorbidities, consanguinity, and healthcare system gaps in aggravating HI outcomes in LMICs. It necessitates emergent interventions such as subsidized prenatal screening, genetic counseling outreach, particularly concerning maternal diabetes, additional research, consanguineous marriage counseling, and neonatal infection control to enhance prognosis and prevent recurrence.