Ichthyosis, petechiae, and arthrogryposis in a neonate.
Pediatr Dermatol
; 40(2): 352-354, 2023 Mar.
Article
en En
| MEDLINE
| ID: mdl-36334031
ABSTRACT
Gaucher disease is a rare lysosomal storage disorder caused by a deficiency in glucocerebrosidase. This enzyme deficiency leads to the accumulation of toxic metabolites in various organs. Multiple subtypes of this disease have been described; however, the perinatal-lethal form is extremely rare and challenging to diagnose. We present a case of a newborn girl with ichthyosis, petechiae, and arthrogryposis, later found to be homozygous for a pathogenic variant of the glucocerebrosidase gene. This case highlights the potential role of dermatologists in the recognition of this rare disease.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Artrogriposis
/
Púrpura
/
Ictiosis Lamelar
/
Enfermedad de Gaucher
/
Ictiosis
Límite:
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Pediatr Dermatol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Estados Unidos