Caffey disease

Caffey disease, also known as infantile cortical hyperostosis, is a rare skeletal disorder characterized by excessive new bone formation (cortical hyperostosis) affecting the long bones, mandible (jawbone), and sometimes the clavicles, scapulae, and ribs. The condition typically presents in infants under five months of age with a classic triad of irritability, soft tissue swelling, and bony changes visible on X-ray. Affected infants often develop fever and painful swelling of the involved areas, which can cause significant distress. The periosteum (outer layer of bone) becomes inflamed and thickened, leading to characteristic radiographic findings of cortical thickening and new bone formation. Caffey disease exists in both a familial (autosomal dominant) form and a sporadic form. The familial form has been linked to a missense mutation in the COL1A1 gene (encoding the alpha-1 chain of type I collagen) on chromosome 17q21. This mutation (R836C) has been identified in multiple affected families. The sporadic form occurs without a family history and may have a different underlying etiology. A severe prenatal form also exists, which can present with polyhydramnios, limb shortening, and angulation of long bones in utero, and may be lethal. The prognosis for the classic infantile form is generally favorable, as the condition is typically self-limiting, with symptoms resolving spontaneously within months, usually by two years of age. Treatment is primarily supportive and symptomatic, including nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen or indomethacin to manage pain and inflammation. In more severe cases, corticosteroids may be used. Long-term outcomes are usually excellent, with most children experiencing complete resolution of bony changes, although recurrences have been reported in rare instances.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Caffey disease