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?
Authors
- Carlos E. Prada (ORCID: https://orcid.org/0000-0003-3348-3531)
- Sheryl Hoyer
- Allegra Quadri (ORCID: https://orcid.org/0000-0001-5143-0818)
- Victoria Kuritza (ORCID: https://orcid.org/0000-0001-9864-4426)
- Jack Herbster
- Michael P. Viglione
- Carly A. Rasmussen
Institutions
- Northwestern University (US)
- Lurie Children's Hospital (US)
- University of Illinois Chicago (US)
- University of Chicago (US)
- Adenosine Therapeutics (United States) (US)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2024-08-05
- DOI
- https://doi.org/10.1002/ajmg.a.63835
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33