Inflammatory Arthritis in a 19-Month-Old Patient With von Hippel–Lindau Disease
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- This is a case report of a 19-month-old female who was first treated for an elbow fracture; however, her course was complicated by a contracture and limited range of motion. MRI revealed a joint effusion with synovial proliferation, which indicated inflammatory arthritis. She later developed nontraumatic swelling of the right knee as well as a prominent limp and was diagnosed with juvenile idiopathic arthritis. At the age of 4 years, she underwent genetic testing for von Hippel–Lindau (VHL) disease and was found to harbor a pathogenic VHL variant. Currently, she has no physical manifestations of VHL disease.
- This is the first reported case of a child with inflammatory arthritis and VHL disease. The authors suggest that, although this may be a pure coincidence, it cannot be ruled out that a pathogenic variant of VHL contributed to the development of inflammatory arthritis.
abstract
This abstract is available on the publisher's site.
Access this abstract nowVon 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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Additional Info
Inflammatory Arthritis in a 19-month-old with Von Hippel-Lindau Disease
R I Med J (2013) 2023 Jun 01;106(5)30-33, MC Bryant, LJ Massingham, A YalcindagFrom MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.