Ichthyosis Prematurity Syndrome Caused by a Novel Homozygous SLC27A4 Mutation in Two Emirati Siblings

Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive congenital ichthyosis caused by variants of the SLC27A4 gene. It is characterized by the clinical triad of premature birth, clay-like vernix at birth, and respiratory complications. Although the skin manifestations tend to improve with age, patients may continue to exhibit mild ichthyosis and atopic manifestations. We describe the first cases of two Emirati siblings with IPS caused by a novel homozygous SLC27A4 variant. Although the patients shared the same variant, they manifested differently, as one exhibited atopic features and the other suffered from recurrent infections. Interestingly, while both patients had elevated IgE levels and eosinophilia, only the patient with atopy responded to dupilumab.