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Summary

A 10-year-old boy with hand joint swelling and short stature was initially misdiagnosed with juvenile idiopathic arthritis. Further investigation revealed a rare genetic disorder affecting bone and joint development.

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Area of Science:

Pediatric Rheumatology
Skeletal Dysplasia
Genetic Disorders

Background:

Juvenile idiopathic arthritis (JIA) is a common cause of chronic joint inflammation in children.
Misdiagnosis can lead to delayed treatment and suboptimal outcomes.
Rare genetic conditions can mimic autoimmune arthropathies in presentation.

Purpose of the Study:

To present a case of a child with persistent hand joint swelling and short stature.
To highlight the diagnostic challenges in differentiating rare skeletal disorders from JIA.
To emphasize the importance of comprehensive skeletal evaluation in complex pediatric cases.

Main Methods:

Clinical presentation of a 10-year-old boy with a 3-year history of hand joint swelling.
Physical examination findings including non-tender swelling, flexion deformities, and short stature.
Laboratory investigations (normal inflammatory markers, negative rheumatoid factor) and a skeletal survey.

Main Results:

The patient exhibited swelling and flexion deformities in metacarpophalangeal and interphalangeal joints.
Short stature (below the third centile) was noted.
Inflammatory markers and rheumatoid factor were negative, inconsistent with typical JIA.

Conclusions:

The clinical picture and negative inflammatory markers suggested a diagnosis other than JIA.
A skeletal survey was crucial for further diagnostic evaluation.
This case underscores the need for considering rare genetic skeletal dysplasias in pediatric patients with atypical joint symptoms.