Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1-Reference-Cited by-同舟云学术

Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1

Published:2024-08-05 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Herbster Jack¹^ORCID,Prada Carlos E.²³,Rasmussen Carly A.³,Quadri Allegra³,Kuritza Victoria⁴,Viglione Michael⁵,Hoyer Sheryl⁴

Affiliation:

1. Biological Sciences Division The University of Chicago Chicago Illinois USA

2. Department of Pediatrics Northwestern University Feinberg School of Medicine Chicago Illinois USA

3. Division of Genetics, Genomics & Metabolism Ann & Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA

4. Department of Dermatology University of Illinois at Chicago Chicago Illinois USA

5. PRW Laboratories Charlottesville Virginia USA

Abstract

AbstractWe 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?

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63835

Reference10 articles.

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