Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1

Herbster, Jack; Prada, Carlos E.; Rasmussen, Carly A.; Quadri, Allegra; Kuritza, Victoria; Viglione, Michael; Hoyer, Sheryl

doi:10.6082/dq65b-02w66

Published August 5, 2024 | Version v1

Journal article Open

Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1

1. University of Chicago
2. Northwestern University
3. Ann & Robert H. Lurie Children's Hospital of Chicago
4. University of Illinois Chicago
5. PRW Laboratories

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?

Data availability

All data underlying the results are available as part of the paper and no additional source data are required. Data sharing is not applicable to this article as no new data were created or analyzed in this study.

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