{Reference Type}: Case Reports
{Title}: Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1.
{Author}: Herbster J;Prada CE;Rasmussen CA;Quadri A;Kuritza V;Viglione M;Hoyer S;
{Journal}: Am J Med Genet A
{Volume}: 0
{Issue}: 0
{Year}: 2024 Aug 5
{Factor}: 2.578
{DOI}: 10.1002/ajmg.a.63835
{Abstract}: 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?