Unmasking JIA mimics: skeletal dysplasias in pediatric rheumatology.
Arthralgia was the most common symptom in skeletal dysplasias misdiagnosed as arthritis
Unmasking JIA mimics: skeletal dysplasias in pediatric rheumatology.
UNLABELLED: This study aims to delineate the clinical, demographic, and molecular characteristics of skeletal dysplasias (SD) referred to a pediatric rheumatology clinic and to identify diagnostic indicators for differentiating these genetic conditions from inflammatory mimics, such as juvenile idiopathic arthritis (juvenile idiopathic arthritis), according to the 2023 International Skeletal Dysplasia Society (International Skeletal Dysplasia Society) classification.
Joint pain occurred in 86% of skeletal dysplasia patients, overlapping with inflammatory arthritis symptoms
Among the 36 patients included in the study, 21 were female and 15 were male.
The median age at symptom onset was 8.3 years (range: 2.1-17.8), while the median age at genetic diagnosis was 11 years (range: 1.9-17.8).
According to the 2023 International Skeletal Dysplasia Society classification, the most common diagnoses were genetic inflammatory or rheumatoid-like osteoarthropathies, spondylometaphyseal dysplasias (SMD), and type 11 collagen disorders.
The most frequent physical examination finding was restricted joint mobility (n = 16, 44%).
This study highlights the importance of distinguishing genetic disorders mimicking rheumatologic diseases in differential diagnosis and aims to increase awareness of these genetic conditions among clinicians.
WHAT IS KNOWN: • Skeletal dysplasias are often misdiagnosed as juvenile idiopathic arthritis due to overlapping musculoskeletal symptoms and diagnostic challenges.
• Misdiagnosis leads to diagnostic delays, unnecessary immunosuppressive treatments, and significant psychosocial burdens for pediatric patients.