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. 

Etiology:

A mutation in the COL1A1 gene has been identified in patients with Caffey disease. This mutation may allow the periosteum to separate from the bone in infancy, leading to the typical clinical findings.  Three different types have been described: sporadic, familial, and prenatal. The familial form is inherited with an autosomal dominant pattern with incomplete penetrance. The prenatal form may be either autosomal dominant or recessive.  Early onset prenatal Caffey disease (less than 35 weeks gestation) is often fatal due to the severity and associated polyhydramnios, lung disease, and prematurity.

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.

References:

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  12. Thometz JG, DiRaimondo CA. A case of recurrent Caffey's disease treated with naproxen. Clinical Orthopaedics & Related Research 1996(323):304-9.
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  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