Congenital cortical hyperostosis, also known as Caffey's disease or infantile cortical hyperostosis, is a rare genetic disorder characterized by excessive bone growth in the cortex of the long bones and jaw. The condition is congenital, meaning it is present at birth, and it is typically diagnosed within the first few months of life.
The main symptoms of congenital cortical hyperostosis include swelling and tenderness around the affected bones, which are usually the jaw and the shafts of the long bones in the arms and legs. These areas may also feel warm to the touch. In some cases, there may be accompanying fever and irritability.
The exact cause of congenital cortical hyperostosis is unknown, but it is believed to result from a mutation in the COL1A1 gene, which is responsible for producing a protein essential for bone development and growth. This mutation leads to an overstimulation of osteoblasts (cells that produce bone), resulting in excessive bone formation.
Treatment for congenital cortical hyperostosis typically involves managing the symptoms and providing relief for pain and discomfort. This may include the use of nonsteroidal anti-inflammatory drugs (NSAIDs) and analgesics. In severe cases, surgical intervention may be required to remove excess bone or correct bone deformities.
Prognosis for congenital cortical hyperostosis is generally good, as the symptoms tend to resolve on their own by the age of 2 or 3. However, close monitoring by medical professionals is crucial to ensure proper bone development and prevent complications. With appropriate management, individuals with congenital cortical hyperostosis can lead normal, healthy lives.
