Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1.

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?

Bullous Systemic Lupus Erythematosus Successfully Treated With Intravenous Immunoglobulin and Mycophenolate Mofetil.

Bullous systemic lupus erythematosus (BSLE) is a rare autoimmune blistering disorder of cutaneous lupus erythematosus (CLE) that typically manifests as an acute vesiculobullous eruption in a patient with systemic lupus erythematosus (SLE). Also, it can rarely present as the initial clinical manifestation of SLE. There is no established US Food and Drug Administration (FDA) therapy for BSLE. We report a case of a 71-year-old Hispanic woman with SLE and lupus nephritis classes III and V who presented to the hospital with a worsening rash with painful, ruptured blisters involving the upper arms, chest, and back. Our patient did not respond to topical or systemic steroids but improved rapidly to combination therapy with intravenous immunoglobulin (IVIg) and mycophenolate mofetil (MMF).