Caffey disease
Caffey Disease
Caffey disease (pronunciation: /ˈkæfi/), also known as Infantile Cortical Hyperostosis (pronunciation: /ɪnˈfæntaɪl ˈkɔːrtɪkəl ˌhaɪpərɒˈstoʊsɪs/), is a rare, self-limiting bone disorder that typically presents itself in infants before the age of five months. The etymology of the term "Caffey disease" is derived from the name of the American pediatrician and radiologist, John Caffey, who first described the condition in 1945.
Symptoms
The primary symptoms of Caffey disease include swelling of the mandible, fever, irritability, and soft-tissue swelling. Other symptoms may include anorexia, vomiting, and failure to thrive.
Causes
Caffey disease is caused by a mutation in the COL1A1 gene, which provides instructions for making a component of type I collagen, a protein that provides structure and strength to connective tissues throughout the body.
Diagnosis
Diagnosis of Caffey disease is typically based on clinical and radiological findings. The disease can be confirmed by genetic testing to identify mutations in the COL1A1 gene.
Treatment
Treatment for Caffey disease is primarily supportive, focusing on managing symptoms. This may include pain management, nutritional support, and physical therapy. In severe cases, surgical intervention may be necessary.
Prognosis
The prognosis for individuals with Caffey disease is generally good, with most children experiencing a complete recovery by the age of two.
See Also
References
External links
- Medical encyclopedia article on Caffey disease
- Wikipedia's article - Caffey disease
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