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

Herbster, Jack; Prada, Carlos E; Rasmussen, Carly A; Quadri, Allegra; Kuritza, Victoria; Viglione, Michael; Hoyer, Sheryl.

Afiliación

Herbster J; Biological Sciences Division, The University of Chicago, Chicago, Illinois, USA.
Prada CE; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Rasmussen CA; Division of Genetics, Genomics & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Quadri A; Division of Genetics, Genomics & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Kuritza V; Division of Genetics, Genomics & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Viglione M; Department of Dermatology, University of Illinois at Chicago, Chicago, Illinois, USA.
Hoyer S; PRW Laboratories, Charlottesville, Virginia, USA.

Am J Med Genet A ; : e63835, 2024 Aug 05.

Article en En | MEDLINE | ID: mdl-39101525

ABSTRACT

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?

Palabras clave

Gaucher disease; case report; eliglustat; ichthyosis

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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

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