Infantile Cortical Hyperostosis (Caffey Disease) Workup

Updated: Jan 26, 2021
  • Author: Cara Novick, MD; Chief Editor: Vinod K Panchbhavi, MD, FACS, FAOA, FABOS, FAAOS  more...
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Laboratory Studies

Although no specific laboratory tests exist to diagnose infantile cortical hyperostosis (Caffey disease), laboratory studies may be performed to help exclude other diagnoses. The erythrocyte sedimentation rate (ESR) and the alkaline phosphatase (ALP) level are often elevated. Anemia and leukocytosis may be present.


Imaging Studies

Radiography is the most valuable diagnostic study in infantile cortical hyperostosis. [26] Radiographs show layers of periosteal new bone formation, with cortical thickening in variable combinations of the long bones, mandible, and clavicle (see the image below). [27]

Radiograph from a 5-month-old infant with infantil Radiograph from a 5-month-old infant with infantile cortical hyperostosis. This image depicts cortical thickening in the pelvis secondary to the disease.

Initially, periosteal new bone is observed to engulf the diaphysis of the bone, causing an increase in bone diameter. Soft-tissue swelling is evident as well. Over time, periosteal new bone increases in density, becoming homogeneous with the underlying cortex. Eventually, the bone remodels and resumes a normal appearance.

Other diagnostic imaging studies have not been proved to yield significant additional benefit. A case report by Sarmento et al reported unusual findings on computed tomography (CT). [28] Magnetic resonance imaging (MRI) results have been described but have not been shown to add any significant information to the results obtainable with radiography. Ultrasonography (US) may be used to diagnose antenatal cases. The appearance of infantile cortical hyperostosis on US is similar to that of cases of osteogenesis imperfecta.

The effects of infantile cortical hyperostosis can sometimes resemble those of child physical abuse. Al Kaissi reported a case of suspected child abuse involving a female infant aged 3 months with multiple inflamed swellings over the limbs. [29] Imaging studies revealed features consistent with Caffey disease, including massive sclerosis of the skull bone associated with significant cortical hyperostosis, as well as mandibular enlargement secondary to new cortical bone formation. Characteristic features of the disease were also seen in the patient's radius and tibia.


Histologic Findings

In the early stages of infantile cortical hyperostosis, inflammation of the periosteum and adjacent soft tissues is observed. As the inflammation resolves, the periosteum remains thickened, and subperiosteal immature lamellar bone is observed. The bone marrow spaces contain vascular fibrous tissue. Mature specimens show hyperplasia of lamellar cortical bone without inflammation or subperiosteal changes.