Infantile Cortical Hyperostosis (Caffey Disease) Clinical Presentation

Updated: May 09, 2018
  • Author: Cara Novick, MD; Chief Editor: Vinod K Panchbhavi, MD, FACS  more...
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Presentation

History

In 1945, Caffey described a group of infants with tender swelling in the soft tissues, cortical thickening in the skeleton, and onset during the first 3 months of life. Infantile cortical hyperostosis appeared to be self-limited, and no clear etiology was noted. To date, the exact course and presentation remain variable for this disease.

Infantile cortical hyperostosis is believed to exist in two forms, familial and sporadic. These forms differ in their onset and presentation.

The familial form seems to have an earlier onset; 24% of these cases are present at birth. [3] Incidence of mandibular involvement is less than that observed in the sporadic form, and the incidence of lower-extremity involvement is higher than that observed in the sporadic form. The tibia is the most frequently involved bone. The average age at onset is 6.8 weeks. The disease appears to be inherited in an autosomal dominant fashion with variable penetrance. [3]

The sporadic form is becoming less common. It has a higher incidence of mandibular involvement than does the familial form. The average age at onset is 9-11 weeks. The etiology is unclear.

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Physical Examination

The classic presentation of infantile cortical hyperostosis includes a triad of irritability, swelling, and bone lesions. The swelling appears suddenly, is deep and firm, and may be tender. Fever may occur. Babies may refuse to eat, especially if they have mandibular involvement, thus creating an appearance of failure to thrive. [22, 5]  Almost all cases are evident in infants by age 5 months.

Infantile cortical hyperostosis is often multifocal and asymmetric. The disease has been described in many bones, including the mandible, tibia, ulna, clavicle, scapula, ribs, humerus, femur, fibula, skull, scapula, ilium, and metatarsals.

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Complications

Long-term deformities of the involved bones, including bony fusions and limb-length inequalities, are possible [23] ; however, these sequelae are rare.

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