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Caffey Disease

Pediatric Orthopedic

InShort

Caffey Disease


Infantile cortical hyperostosis, also known as Caffey disease (or Caffey’s disease), is a benign process that consists of rapid growth of subperiosteal bone along the diaphysis of the long bones in children ~ 2 months to 2 years of age. The disease spontaneously resolves without intervention. The new subperiosteal bone thickens the cortex, causing hyperostosis. The mandible is a common site of involvement. Any bone, including the ribs, may be affected. There tends to be bilateral symmetric involvement of the affected bones.


Signs and Symptoms

Caffey disease often presents with swelling of the body area superficial to the affected bone. Bone pain of varying degrees is often present. Affected patients may present with fever and tenderness of the bone. Location of the bone involvement (diaphysis), patient age, and radiographs help to distinguish infantile cortical hyperostosis from osteomyelitis.


Causes and Risk Factors

Caffey disease is believed to be due to a mutation in the COL1A1 gene. It is transmitted as an autosomal dominant disorder with variable penetrance.


Diagnostic Evaluation

A good history and physical examination are the first line for making a diagnosis. Radiographs of the affected body part are taken, and laboratory tests are performed. Inflammatory markers (erythrocyte sedimentation rate, C-reactive protein, and immunoglobulin levels) are measured. With increased bone turnover, alkaline phosphatase levels are often elevated. There are a number of disorders in the differential (eg, hypervitaminosis A, child abuse, scurvy), but the major entity that must be distinguished from Caffey disease is osteomyelitis. The diagnosis can be confirmed with appropriate genetic testing.


Treatment

Treatment of Caffey disease is generally supportive, with administration of analgesics for pain, antipyretics for fever, and reassurance. Usually, nonsteroidal anti-inflammatory agents are sufficient; in rare cases, corticosteroids may be necessary.


Prognosis

The prognosis for Caffey disease is usually excellent, with spontaneous resolution of the disease after 2 years of age.


Complications

Bone affected by Caffey disease may be more prone to fracture.


Pearl to Know

Goldbloom syndrome is similar to Caffey disease with respect to the hyperostosis; however, Goldbloom syndrome is associated with dysproteinemia and generally occurs in older children, preteens, and teens. Like Caffey's disease, this process has similar symptoms and usually resolves on its own. The etiology of Goldbloom disease is unknown.



 

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