Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1.
Am J Med Genet A
; : e63835, 2024 Aug 05.
Article
em En
| MEDLINE
| ID: mdl-39101525
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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MEDLINE
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En
Ano de publicação:
2024
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Article