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Chronic, infantile, neurological, cutaneous and articular syndrome in Japan; two case reports
1Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
Insights
This study describes two Japanese children with a rare infantile neurological, cutaneous, and articular syndrome. Findings highlight shoulder joint overgrowth and growth retardation, emphasizing the syndrome
Area of Science:
- Pediatrics
- Genetics
- Rheumatology
Background:
- Chronic infantile neurological, cutaneous, and articular syndrome (CINCA) is a rare autoinflammatory disorder.
- European and American literature has rarely documented shoulder joint involvement in CINCA syndrome.
Observation:
- Two Japanese children presented with CINCA syndrome.
- The first case exhibited epiphyseal overgrowth in both shoulder joints.
- The second case experienced severe growth retardation due to premature physeal closure.
Findings:
- Shoulder joint lesions, including overgrowth and growth retardation, are significant manifestations of CINCA syndrome in Oriental populations.
- Growth hormone (GH) levels are not influenced by this syndrome, ruling out endocrine dysfunction as a primary cause.
Implications:
- Recognizing CINCA syndrome in the Orient is crucial for accurate diagnosis and management.
- Further research into the genetic and environmental factors contributing to CINCA syndrome in diverse populations is warranted.
Abstract:
We report two Japanese children with chronic, infantile, neurological, cutaneous and articular syndrome. Although the shoulder joint lesion has been rare in the literature of Europe and America, our first case showed overgrowth of the epiphysis in the bilateral shoulder joints. The second case exhibited severe growth retardation caused by early closure of the physis. The influence of GH is irrelevant in this syndrome. The existence of this syndrome in the Orient should be recognized.