Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1.
Am J Med Genet A
; : e63835, 2024 Aug 05.
Article
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| 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?
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos