Cortical Congenital Hyperostoses, also known as Caffey disease, is a rare genetic disorder characterized by abnormal bone growth in infants and children. It is considered a form of skeletal dysplasia, which refers to a group of conditions involving abnormal development and growth of the bones.
The disorder is usually present at birth or develops within the first few weeks or months of life. It primarily affects the long bones of the body, such as the arms and legs, but can also involve the jawbone, collarbone, and other skeletal structures. The bone overgrowth often causes swelling, tenderness, and warmth in the affected areas.
Cortical Congenital Hyperostoses is thought to be caused by a spontaneous mutation in a specific gene, and is not usually inherited. The exact mechanism underlying the abnormal bone growth is still not fully understood, but it is believed to involve an exaggerated inflammatory response, leading to increased bone formation.
The disorder typically resolves spontaneously after a period of time, usually within two to five years. During this time, treatment focuses on managing the symptoms, such as pain and swelling, through medications like nonsteroidal anti-inflammatory drugs (NSAIDs). In severe cases, surgical intervention may be required to relieve pressure on vital organs or correct deformities caused by the excessive bone growth.
Early diagnosis is crucial in order to distinguish Cortical Congenital Hyperostoses from other bone-related conditions. Genetic testing and imaging techniques, such as X-rays and CT scans, are commonly used for diagnosis. Regular follow-ups with healthcare professionals are important for monitoring the progress and ensuring appropriate management of the disorder.
