Caffey disease

Caffey disease, also known as cortical congenital hyperostosis or infantile cortical hyperostosis, is a rare bone disorder that causes rapid new bone formation and inflammation in infants. It usually affects the shafts of long bones such as those in the arms and legs, as well as the ribs, mandible (jawbone), scapulae (shoulder blades), and clavicles (collarbones). Most cases of Caffey disease begin around 2 months of age, although in some instances the disease may start before birth. The condition is marked by acute inflammation that leads to pain, fever, irritability, and swelling in the soft tissues. Despite the dramatic changes seen in the bones during the active phase, the condition is usually self-limited and resolves by the time children are around 2 years old.

People with Caffey disease often experience symptoms such as fever, irritability, and pain. There is also noticeable soft tissue swelling near the affected bones. The inflammation associated with the disease can lead to discomfort and changes in the appearance of the bones during the active phase of the illness.

Caffey disease is linked to changes in the COL1A1 gene, which plays a key role in the production of collagen, an important protein found in bones and connective tissue. This genetic association is thought to contribute to the abnormal inflammation and rapid new bone formation seen in the condition. However, while the genetic factor is recognized, information about additional causes or risk factors is currently limited for this condition.

Treatment for Caffey disease generally focuses on managing symptoms such as pain, fever, and inflammation. Since the condition is self-limited and most children recover by the age of 2 years, care is often supportive and aimed at ensuring comfort during the active phase of the disease.

The outlook for people with Caffey disease is generally good. The condition tends to resolve on its own by the age of 2 years, and long-term complications are rare. As the symptoms improve with age, the overall quality of life is usually not affected in the long term.

Information about current research and future directions is currently limited for this condition. Ongoing studies aim to better understand the genetic and molecular mechanisms behind the abnormal bone formation seen in Caffey disease, which may help guide future approaches to care and management.