eMedicine Specialties > Orthopedic Surgery > Pediatrics

Infantile Cortical Hyperostosis

Author: Cara Novick, MD, Consulting Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa
Coauthor(s): Dennis P Grogan, MD, Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa
Contributor Information and Disclosures

Updated: Sep 25, 2007

Introduction

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

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.

More on Infantile Cortical Hyperostosis

Overview: Infantile Cortical Hyperostosis
Differential Diagnoses & Workup: Infantile Cortical Hyperostosis
Treatment & Medication: Infantile Cortical Hyperostosis
Follow-up: Infantile Cortical Hyperostosis
Multimedia: Infantile Cortical Hyperostosis
References
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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. 3rd 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].

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Further Reading

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Keywords

Caffey's disease, Caffey disease, familial infantile cortical hyperostosis, sporadic infantile cortical hyperostosis

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Contributor Information and Disclosures

Author

Cara Novick, MD, Consulting Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa
Cara Novick, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons and Pediatric Orthopaedic Society of North America
Disclosure: Nothing to disclose.

Coauthor(s)

Dennis P Grogan, MD, Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa
Dennis P Grogan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

Medical Editor

Mininder S Kocher, MD, MPH, Associate Professor of Orthopedic Surgery, Harvard Medical School/Harvard School of Public Health; Associate Director, Division of Sports Medicine, Department of Orthopedic Surgery, Children's Hospital Boston
Mininder S Kocher, MD, MPH is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association for the History of Medicine, American Medical Association, American Orthopaedic Society for Sports Medicine, and Massachusetts Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Jerome D Wiedel, MD, Chair, Professor, Department of Orthopedics, University of Colorado Health Sciences Center
Disclosure: Nothing to disclose.

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Harris Gellman, MD, Consulting Surgeon, Broward Hand Center, Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami School of Medicine
Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, and Arkansas Medical Society
Disclosure: Nothing to disclose.

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