We describe a case in which a type 1 Gaucher patient developed ichthyosis weeks after starting substrate reduction therapy (SRT) with eliglustat. There are no reports of ichthyosis in the literature in enzyme replacement or SRT for Gaucher disease. Ichthyosis is seen with type 2 and 3 Gaucher disease, but not type 1. This raises the question: Why would a patient develop ichthyosis after starting SRT?
Keywords: Gaucher disease; case report; eliglustat; ichthyosis.
© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.