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[Caffey disease. A case report].

J A Alvear-Pineda, J Cortés-Gómez

    Acta Ortopedica Mexicana
    |April 8, 2014
    PubMed
    Summary

    Infantile cortical hyperostosis, also known as Caffey-Silverman syndrome, is a rare skeletal disorder. This report details its musculoskeletal alterations, aiding orthopedic diagnosis in children with swelling and bone abnormalities.

    Area of Science:

    • Orthopedics
    • Pediatrics
    • Genetics

    Background:

    • Infantile cortical hyperostosis (Caffey-Silverman syndrome) is a rare, poorly understood condition affecting bones and soft tissues.
    • Its etiology remains unknown, with hypotheses including hereditary, allergic, immune, or infectious factors.

    Observation:

    • A case report of a seven-year-old female with Caffey-Silverman disease presenting with forearm swelling, pain, and irritability.
    • Clinical manifestations included indurated edema, chronicity over years, and periosteal reaction.

    Findings:

    • The disease is characterized by unknown triggers leading to hypoxia, local necrosis, and periosteal reactions.
    • While familial occurrence suggests possible autosomal dominant inheritance with variable penetrance, definitive genetic factors are unproven.

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    Implications:

    • Increased awareness of Caffey-Silverman syndrome is crucial for early suspicion and improved diagnostic workup in pediatric cases.
    • Recognizing its musculoskeletal manifestations aids orthopedic specialists in differential diagnosis for children presenting with unexplained swelling and bone abnormalities.