AUTHOR AND EDITOR INFORMATION

Section 1 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• Multimedia
• References

INTRODUCTION

Section 2 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• Multimedia
• References

Background

In 1945, Caffey first described infantile cortical hyperostosis, also known as Caffey disease, a self-limited disorder that affects infants and causes bone changes, soft-tissue swelling, and irritability.¹ Although the etiology of this condition is not completely understood, familial and sporadic forms appear to exist.^{2, 3} (Also see the eMedicine article Caffey Disease, in Radiology.)

Pathophysiology

Infantile cortical hyperostosis is an inflammatory process of unclear etiology. In the early stages of this condition, inflammation of the periosteum and adjacent soft tissues is observed. As this resolves, the periosteum remains thickened, and subperiosteal immature lamellar bone is noted. The bone marrow spaces contain vascular fibrous tissue. Mature specimens show hyperplasia of the lamellar cortical bone without inflammation or subperiosteal changes.

Frequency

United States

The disease has been reported to affect 3 per 1000 infants younger than age 6 months.⁴

Mortality/Morbidity

Infantile cortical hyperostosis is a self-limited condition.

Race

No racial predilection has been established.

Sex

No sex predilection has been established.

Age

The disease may be present at birth or shortly thereafter. The familial form tends to have an earlier onset and is present at birth in 24% of cases, with an average age at onset of 6.8 weeks.³ The average age at onset for the sporadic form of infantile cortical hyperostosis is 9-11 weeks.

CLINICAL

Section 3 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• Multimedia
• References

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 2 forms, familial and sporadic. These forms differ in their onset and presentation, as follows:

• 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 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.

Physical

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. 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 metatarsal.

Causes

Although the etiology of infantile cortical hyperostosis is not clear, evidence of genetic transmission exists. Some believe that transmission may occur via an infectious agent with a long latency period. Other theories include a primary arterial abnormality and allergic reaction.

DIFFERENTIALS

Section 4 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• Multimedia
• References

Other Problems to Be Considered

The most significant differential diagnosis is osteomyelitis because of the need for urgent treatment. In addition, the following conditions should be included in the differential diagnosis: trauma, hypervitaminosis A, hyperphosphatemia, prostaglandin E1 and E2 administration, infection (including syphilis), and metastatic neuroblastoma.

Other diseases can usually be excluded based on the narrow age range for presentation of infantile cortical hyperostosis; the triad of irritability, swelling, and bone lesions; and the presence of mandibular involvement.

WORKUP

Section 5 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• Multimedia
• References

Lab Studies

• Although no specific laboratory tests exist to diagnose infantile cortical hyperostosis, laboratory studies may be performed to help exclude other diagnoses.
• • Erythrocyte sedimentation rate (ESR) and alkaline phosphatase levels are often elevated.
  • Anemia and leukocytosis may be present.

Imaging Studies

• Radiography is the most valuable diagnostic study in infantile cortical hyperostosis. Radiographs show layers of periosteal new bone formation, with cortical thickening in variable combinations of the long bones, mandible, and clavicle. Initially, periosteal new bone is observed to engulf the diaphysis of the bone, causing an increase in diameter of the bone. Soft-tissue swelling is evident as well. Over time, the periosteal new bone density increases, becoming homogeneous with the underlying cortex. Eventually, the bone remodels and resumes a normal appearance.
• Other diagnostic imaging studies have not proved to be helpful. Magnetic resonance imaging (MRI) results have been described but do not add any significant information to that of radiographs.
• Ultrasonography may be used to diagnose prenatal cases. The appearance of infantile cortical hyperostosis on sonograms is similar to that of cases of osteogenesis imperfecta.

Histologic Findings

In the early stages of infantile cortical hyperostosis, inflammation of the periosteum and adjacent soft tissues is observed. As this 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.

TREATMENT

Section 6 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• Multimedia
• References

Medical Care

No specific treatment exists for infantile cortical hyperostosis. The disease is self-limited and usually resolves without sequelae. Some periods of exacerbation and remission may occur during the course of this condition.

Corticosteroids may be helpful in alleviating symptoms in severe cases, but these agents do not have any affect on the bone lesions. Nonsteroidal anti-inflammatory drugs (NSAIDs) may also be used to treat symptoms.

FOLLOW-UP

Section 7 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• Multimedia
• References

Complications

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

Prognosis

• Infantile cortical hyperostosis usually runs its course and resolves without sequelae in 6-9 months.

MISCELLANEOUS

Section 8 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• Multimedia
• References

Medical/Legal Pitfalls

• Infantile cortical hyperostosis is a rare condition. Care must be taken to ensure that other possible diagnoses, including infection and tumor, are not overlooked (see Differentials and Other Problems to Be Considered). Osteomyelitis, which is significantly more common than infantile cortical hyperostosis, should be considered and ruled out.

MULTIMEDIA

Section 9 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• Multimedia
• References

Media file 1:  Radiograph from a 5-month-old infant with infantile cortical hyperostosis. This image depicts cortical thickening in the pelvis secondary to the disease.
	View Full Size Image
Media type:  X-RAY

REFERENCES

Section 10 of 10

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Follow-up
• Miscellaneous
• Multimedia
• References

1. Caffey J. Infantile cortical hyperostoses. J Pediatr. 1946;29:541-59.
2. Bernstein RM, Zaleske DJ. Familial aspects of Caffey's disease. Am J Orthop. Oct 1995;24(10):777-81. [Medline].
3. Saul RA, Lee WH, Stevenson RE. Caffey's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance. Am J Dis Child. Jan 1982;136(1):55-60. [Medline].
4. Herring JA, ed. Infantile cortical hyperostosis. Tachdjian's Pediatric Orthopaedics. 3^rd ed. Philadelphia, Pa: WB Saunders Co; 2002:1561-5.
5. Blank E. Recurrent Caffey's cortical hyperostosis and persistent deformity. Pediatrics. Jun 1975;55(6):856-60. [Medline].
6. Kovacic K, Hajnzic TF, Roncevic S, et al. Mandibular Caffey's disease--case report. Coll Antropol. Mar 2007;31(1):359-61. [Medline].
7. Shannon FJ, Murphy M, Atchia I, Phelan E, Fogarty EE. Caffey's disease: an unusual cause for concern. Ir J Med Sci. Jun 2007;176(2):133-6. [Medline].
8. Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. Mar 2007;71(3):280-4. [Medline].

Article Last Updated: Sep 25, 2007