Infantile cortical hyperostosis, also known as Caffey's disease or Caffey-Silverman syndrome, is a rare genetic disorder characterized by excessive bone growth in infants. It typically manifests within the first few months of life and primarily affects the long bones and the mandible (lower jaw bone).
The condition is believed to be caused by a gene mutation, resulting in an abnormal immune response that triggers inflammation in the affected bones. This inflammation leads to overproduction of new bone tissue and subsequent thickening and hardening of the affected bones.
Infantile cortical hyperostosis is often accompanied by symptoms such as pain, swelling, and tenderness in the affected bones. In some cases, the inflammation may also cause fever and irritability. The excessive bone growth can lead to developmental abnormalities, such as limb deformities or craniofacial asymmetry. However, these symptoms usually resolve spontaneously within a few months to two years.
Diagnosis of infantile cortical hyperostosis is typically made based on clinical presentation, radiographic findings, and genetic testing. Treatment mainly focuses on managing the symptoms, such as providing pain relief through medication and ensuring proper nutrition. In severe cases, surgical intervention may be necessary to correct any skeletal deformities or to alleviate significant pain.
While infantile cortical hyperostosis can be a distressing condition for affected infants and their families, the prognosis is generally favorable. The excessive bone growth tends to resolve spontaneously, and most children with this condition have near-normal bone development and function in the long term.
