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Ultrasound findings in infantile systemic hyalinosis
José Alexandre Mendonça1, Roberto Marini, Nadia Bossolan Schincariol
1Rheumatology Service, Pontifica Universidade de Campinas, Campinas, Brazil.
Insights
Infantile systemic hyalinosis (ISH) presents with joint contractures and characteristic ultrasound findings. These US findings may aid in early differentiation from juvenile idiopathic arthritis (JIA).
Area of Science:
- Pediatric Rheumatology
- Medical Imaging
- Rare Genetic Disorders
Background:
- Infantile systemic hyalinosis (ISH) is a rare, severe genetic disorder.
- Early diagnosis is crucial for management, but clinical presentation can be variable.
Observation:
- A 5-month-old boy with ISH presented with joint contractures, short neck, gingival hyperplasia, and papular rash.
- Clinical joint examination revealed painful passive movement and reduced range of motion without synovial thickening.
Findings:
- Ultrasound (US) of affected joints showed irregular cortical surfaces, osteophytes, bone erosions, and increased synovial fluid.
- These US findings were observed without evidence of synovial hyperplasia, distinguishing it from other arthropathies.
Implications:
- This is the first report detailing ultrasound findings in infantile systemic hyalinosis.
- US imaging may prove valuable in distinguishing ISH from juvenile idiopathic arthritis (JIA) in early stages.
Abstract:
To describe clinical and ultrasound findings in a patient with infantile systemic hyalinosis (ISH). A 5-month-old boy was evaluated of joint contractures. In addition to clinical and laboratory investigations, an ultrasound of his joints was done and compared to a child with similar age. On examination, a short neck, gingival hyperplasia and papular rash were noted. Joint examination showed painful passive movement, reduced range of motion, and joint contractures in knees, elbows, and small joints of the hands, without any evidence of synovial thickness. Ultrasound of the affected joints showed irregular cortical surface of MCPs and PIP, the presence of osteophytes and bone erosions, increased synovial fluid without evidence of synovial hyperplasia. This is the first report to show evidence of US findings in ISH. Ultrasound findings may help to distinguish ISH from JIA in early stages.
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