Inflammatory Arthritis in a 19-month-old with Von Hippel-Lindau Disease.
R I Med J (2013)
; 106(5): 30-33, 2023 Jun 01.
Article
en En
| MEDLINE
| ID: mdl-37195158
ABSTRACT
Von Hippel-Lindau disease (VHL) is a rare autosomal dominant disease characterized by progressive development of cysts and tumors. Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disorder and the most common arthritis in children. Although the mechanism of pathogenesis is not fully understood, JIA is thought to be a polygenic, autoimmune-mediated disease. Inherited or acquired disorders resulting in immune dysregulation can lead to neoplastic and autoimmune disease, but very few cases of patients with VHL and concomitant autoimmune disease are reported in the literature. Herein, we describe, to the best of our knowledge, the first reported case of a child with VHL and inflammatory arthritis, and we discuss three possible pathophysiologic mechanisms that could link VHL and JIA. Understanding the shared pathophysiology and genetics of both diseases may help guide future direction of targeted therapies and lead to improved clinical outcomes.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Artritis
/
Enfermedad de von Hippel-Lindau
Límite:
Child
/
Humans
/
Infant
Idioma:
En
Revista:
R I Med J (2013)
Año:
2023
Tipo del documento:
Article