Caffey De Toni Silvermann syndrome, also known as Caffey's disease or infantile cortical hyperostosis, is a rare genetic disorder characterized by widespread swelling, softening, and inflammation of the bones in infants. It is named after its first describers, American pediatric radiologist John Francis Caffey and Swiss pediatricians Guido De Toni and Pierre Maroteaux Silvermann.
This syndrome typically affects infants between the ages of two weeks and five months, but it can also occur in older children. The main symptoms include fever, irritability, tenderness, and swelling in various bones, particularly the jaw, collarbones, shoulder blades, and long bones. Infants may also present with difficulty in movement, reduced appetite, and a significant decrease in their overall well-being.
The precise cause of Caffey De Toni Silvermann syndrome is not fully understood, but genetic mutations are believed to play a key role. It is thought to be inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the mutation on to their children. However, in some cases, the syndrome may occur spontaneously without a family history of the disorder.
Diagnosis is predominantly based on physical examination findings and imaging techniques such as X-rays, which reveal the characteristic bone changes associated with the syndrome. Treatment typically involves addressing the pain and inflammation through the use of nonsteroidal anti-inflammatory drugs. Symptoms tend to resolve spontaneously within several months, and most individuals with Caffey De Toni Silvermann syndrome experience a full recovery with no long-term effects. However, in rare cases, there may be complications such as bone deformities or persistent growth abnormalities. Long-term follow-up may be recommended to ensure appropriate skeletal development.
