Infantile cortical hyperostosis
The patient was managed conservatively, reassuring his mother. At follow-up after 3 months the mother complained that although the child was better than before, the leg swelling seemed to be getting worse. The child continued to be afebrile. Careful clinical palpation of the leg showed a further increase in the girth compared with the last examination. The X-rays were repeated. The mother was reassured and was sent home.
The origin is unknown, but numerous reports of familial occurrence suggests a probable hereditary origin with autosomal dominance with incomplete penetrance (1). It involves a defect of the periosteal arterioles, and infection and a dietary role have been postulated.
Pathologically there is marked inflammation involving the periosteum and the surrounding soft tissues. This leaves the underlying periosteum thickened, followed by lamellar bone formation. Experimental studies suggest hypoxia as a causative agent for reactive hyperostosis. Bones involved, in order of frequency, are mandible, ulna, tibia, clavicles, scapulae and ribs. Rarely the skull bones are involved, and the bones of the hand or vertebrae are never involved. Commonly more than one bone is affected. It commonly occurs around the 5th month of postnatal life, although a perinatal lethal type (2) and a late-onset type (3) have also been described.
Clinical features are hyperirritability and a local mass, often over the mandible. The swelling is sudden in appearance, firm and may be tender initially. There is no local heat or redness. Blood investigations are normal. Radiographic appearances show abundant new bone formation resulting in an increase in diameter of the bone. Rarely intramedullary lytic lesions have been reported (4). Differential diagnosis includes Ewing's sarcoma, chronic osteomyelitis, and hypervitaminosis A. Biopsy is rarely necessary to confirm diagnosis. Treatment is usually reassurance with steroids for acute presentation. Use of indomethacin has been mentioned (5). Reactivation of the lesions has also been reported.
 1. Saul RA, Lee WH, Stevenson RE. Caffey's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance. Am J Dis Child 1982 Jan;136(1):55-60. (PMID: 7034524)
 3. Ventura A, Casini P, Ferrante L. Different clinical picture in early and late onset cortical hyperostosis. Pediatr Med Chir 1983 Sep-Oct;5(5):359-63. (PMID: 6399932)
 5. Couper RT, McPhee A, Morris L. Indomethacin treatment of infantile cortical periostosis in twins. AM J Paediatr Child Health 2001 Jun;37(3):305-8. (PMID: 11468051)
 2. Turnpenny PD, Davidson R, Stockdale EJ, Tolmie JL, Sutton AM. Severe prenatal infantile cortical hyperostosis (Caffey's disease). Clin Dysmorphol 1993 Jan;2(1):81-6. (PMID: 8298744)
 4. Leung VC, Lee KE. Infantile cortical hyperostosis with intramedullary lesions. J Pediatr Orthop 1985 May-Jun;5(3):354-7. (PMID: 3889053)