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
2024

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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?

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Title
Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1
Author
Herbster, Jack : University of Chicago : (https://orcid.org/0009-0003-9593-0007)
Prada, Carlos E. : Northwestern University
Rasmussen, Carly A. : Ann & Robert H. Lurie Children's Hospital of Chicago
Quadri, Allegra : Ann & Robert H. Lurie Children's Hospital of Chicago
Kuritza, Victoria : University of Illinois Chicago
Viglione, Michael : PRW Laboratories
Hoyer, Sheryl : University of Illinois Chicago
Content Type
Article
Published in
American Journal of Medical Genetics Part A
Keywords
Identifier(s)
DOI: https://doi.org/10.1002/ajmg.a.63835
Data availability statement
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.
Publication Date
2024-08-05
Language
English
Copyright Statement

© 2024 The Author(s)

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Record Appears in
Biological Sciences Division > Medicine
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Record Created
2024-11-10

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