Rubinstein-Taybi Syndrome With Severe Eczema, Recurrent Infections, and Hyper IgE Profile Responsive to Dupilumab Treatment.

Abstract

Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder characterized by post-natal growth retardation, facial dysmorphism, large thumbs and halluces, and intellectual deficits. RTS has a broad phenotypic spectrum including cardiac, genitourinary, digestive, ear, nose and throat, and skin manifestations. Patients also have an increased risk of severe infections, developing benign tumors, and immunological abnormalities suggesting primary immunodeficiencies. We report a case of RTS with severe recalcitrant eczema, recurrent skin and chest infections, food allergies associated with a hyper-IgE profile, and other immunological abnormalities, who had a significant response to dupilumab.