Refractory pruritus responds to dupilumab in a patient with TTC7A mutation

Abstract

IL: interleukin MIA: multiple intestinal atresia TTC7A: tetratricopeptide repeat domain 7A INTRODUCTION Tetratricopeptide repeat domain 7A (TTC7A) mutations are known to cause multiple intestinal atresia (MIA), early onset inflammatory bowel disease, and combined immunodeficiency. Skin involvement appears mainly after the age of 2 years. This case is the first report of eczematous lesions and refractory chronic pruritus in a TTC7A-deficient patient. Dupilumab was successfully used to treat these manifestations.