Caffey Disease

Description: CAFFEY DISEASE Alternative titles; symbols INFANTILE (CONGENITAL)CORTICAL HYPEROSTOSIS PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED Caffey disease is caused by mutation in the alpha-1 collagen type I gene (COL1A1; 120150). CLINICAL FEATURES Infantile cortical hyperostosis has somewhat unusual features for a hereditary disorder. It rarely if ever appears after 5 months of age and usually resolves spontaneously by 2 years of age; it is sometimes present at birth and has been identified by x-ray in the fetus in utero. The acute manifestations are inflammatory in nature, with fever and hot, tender swelling of involved bones (e.g., mandible, ribs). Despite striking radiologic changes in the acute stages, previously affected bones are often completely normal on restudy. However, Taj-Eldin and Al-Jawad (1971) described a case followed since infancy with recurrences documented up to 19 years of age (1971). (Incontinentia pigmenti (308300) is another familial condition in which 'active' lesions at birth and early in life may leave little or no residue.) Pickering and Cuddigan (1969) suggested that vascular occlusion secondary to thrombocytosis may be involved in the pathogenesis. X-ray findings in 3 members of the family were reported by Pajewski and Vure (1967).