Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing

Neonatal erythroderma (NE) is an uncommon but serious presentation characterised by generalised erythema and scaling from birth. Its aetiology is diverse, encompassing congenital ichthyoses, infections, metabolic disorders, immunodeficiencies, and syndromic causes. We report the case of a full-term male neonate presenting shortly after birth with diffuse erythema, fine scaling, and areas of skin peeling, without mucosal involvement or systemic instability. Investigations, including biochemical studies, infection screening, and a next-generation sequencing ichthyosis panel, were unremarkable. Dermatology review favoured a diagnosis of congenital ichthyosiform erythroderma (CIE), and supportive management was initiated with regular emollients. The infant remained stable and was discharged with close multidisciplinary follow-up. Although the presentation was consistent with CIE, the clinical diagnosis remained uncertain at this stage. This case illustrates the diagnostic uncertainty inherent in NE and highlights the limitations of genetic testing in the neonatal period. Safe management centres on a structured multidisciplinary approach, longitudinal clinical assessment, parental education, and ongoing research to guide prognosis and therapy.