Study Guide

Infantile Cortical Hyperostosis (Caffey Disease)

Key Points:

•    Disease process in very young children that consists of fever and tender soft tissue swelling
•    Radiographs show new subperiosteal bone and later cortical thickening
•    Self-limited condition that is treated symptomatically; no active treatment required

Description:

Infantile cortical hyperostosis (Caffey Disease), typically presents between the ages of 6 weeks and 6 months with irritability, swelling, and multiple bone lesions, commonly including mandibular involvement.

Epidemiology:

Clinical Findings:

The most common presentation is that of an irritable child. Fever, tenderness, and soft tissue swelling overlying the involved bone are occasionally present. Mandibular involvement may lead to poor oral intake and failure to thrive. Symptomatic episodes are usually self-limited and may recur spontaneously.  Typically, the episodes resolve by the age of 2 to 3 years. Laboratory investigation may demonstrate increased erythrocyte sedimentation rate, increased white blood cell count, increased alkaline phosphatase, or iron deficiency anemia. The differential diagnosis includes prostaglandin E administration, child abuse, infection, scurvy, congenital syphilis, hypervitaminosis A, Ewing’s sarcoma, and metastatic neoplasms such as neuroblastoma.

Imaging Studies:

Radiographically, there is abundant subperiosteal new bone formation along the diaphysis which eventually increases the diameter of the bone by thickening the cortex. The most common bones affected are the ulna, mandible, ribs and clavicle. Prenatal diagnosis with ultrasound may resemble osteogenesis imperfecta.  Radiographic findings in the prenatal subtype includes short, angulated long bones with irregular diaphyses but no fractures. 

Treatment:

Most cases do not require active treatment. Fever and pain may be managed expectantly. In a reported case, naproxen given as a prostaglandin inhibitor was successful in treating one case of recurrent infantile cortical hyperostosis.  Corticosteroids may reduce the systemic manifestations, but is considered only for infants with extensive disease.

Complications:

Spontaneous fusion of the ribs, tibia and fibula, and radius and ulna have been noted. Asymmetric involvement may lead to limb length inequality.  Due to the collagen abnormalities, some older patients may have joint hyperextensibility and subluxation. Furthermore, as this disease was first characterized by Caffey while investigating the radiographic presentation of child abuse, this serious etiology for osseous abnormalities must be excluded.

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References:

  1. Bernstein RM, Zaleske DJ. Familial aspects of Caffey's disease. American Journal of Orthopedics.1995;24(10):777-81.
  2. Finsterbush A, Husseini N. Infantile cortical hyperostosis with unusual clinical manifestations. Clinical Orthopaedics & Related Research 1979(144):276-9.
  3. Frana L, Sekanina M. Infantile cortical hyperostosis. Archives of Disease in Childhood 1976;51(8):589-95
  4. Fried K, Manor A, Pajewski M, Starinsky R, Vure E. Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). Clinical Genetics 1981;19(4):271-4.
  5. Harris VJ, Ramilo J. Caffey's disease: a case originating in the first metatarsal and review of a 12 year experience. AJR. American Journal of Roentgenology 1978;130(2):335-7.
  6. Lachaux A, Le Gall C, Loras Duclaux I, Hermier M. [Familial infantile cortical hyperostosis (Caffey's disease) with osteolytic lesions of the skull]. Archives Francaises de Pediatrie 1992;49(6):525-8.
  7. Mikati MA, Melhem RE, Najjar SS. The syndrome of hyperostosis and hyperphosphatemia. Journal of Pediatrics 1981;99(6):900-4.
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  9. Pazzaglia UE, Byers PD, Beluffi G, Chirico G, Rondini G, Ceciliani L. Pathology of infantile cortical hyperostosis (Caffey's disease). Report of a case. Journal of Bone & Joint Surgery - American Volume 1985;67(9):1417-26.
  10. Saatci I, Brown JJ, McAlister WH. MR findings in a patient with Caffey's disease [see comments]. Pediatric Radiology 1996;26(1):68-70.
  11. Talab YA, Mallouh A. Hyperostosis with hyperphosphatemia: a case report and review of the literature. Journal of Pediatric Orthopedics 1988;8(3):338-41.
  12. Thometz JG, DiRaimondo CA. A case of recurrent Caffey's disease treated with naproxen. Clinical Orthopaedics & Related Research 1996(323):304-9.
  13. Tien R, Barron BJ, Dhekne RD. Caffey's disease: nuclear medicine and radiologic correlation: a case of mistaken identity. Clinical Nuclear Medicine 1988;13(8):583-5.
  14. Turnpenny PD, Davidson R, Stockdale EJ, Tolmie JL, Sutton AM. Severe prenatal infantile cortical hyperostosis (Caffey's disease). Clinical Dysmorphology 1993;2(1):81-6.
  15. Zaleske DJ. Metabolic and endocrine abnormalities. In: Morrissy RT, Weinstein SL, editors. Pediatric Orthopaedics. Philadelphia: Lippincott-Raven; 1996. p. 137-201.

Top Contributors:

Robert F. Murphy, MD