Infantile Cortical Hyperostosis Workup

  • Author: Cara Novick, MD; Chief Editor: Harris Gellman, MD   more...
 
Updated: Jan 25, 2010
 

Laboratory 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.
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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.
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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.

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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.

Specialty Editor Board

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: Smith & Nephew Endoscopy Consulting fee Consulting; ConMed Linvatec Consulting fee Consulting; Covidian Consulting fee Consulting; EBI Biomet Consulting fee Consulting; OrthoPediatrics Consulting fee Consulting

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Jerome D Wiedel, MD  Chair, Professor, Department of Orthopedics, University of Colorado Health Sciences Center

Disclosure: Nothing to disclose.

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

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.

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. Kamoun-Goldrat A, le Merrer M. Infantile cortical hyperostosis (Caffey disease): a review. J Oral Maxillofac Surg. Oct 2008;66(10):2145-50. [Medline].

  5. Wong YK, Cheng JC. Infantile cortical hyperostosis of the mandible. Br J Oral Maxillofac Surg. Sep 2008;46(6):497-8. [Medline].

  6. Skiker I, Dafiri R. [Unusual lytic bone lesions in Caffey's disease]. J Radiol. Nov 2008;89(11 Pt 1):1767-9. [Medline].

  7. Kamoun-Goldrat A, Martinovic J, Saada J, Sonigo-Cohen P, Razavi F, Munnich A, et al. Prenatal cortical hyperostosis with COL1A1 gene mutation. Am J Med Genet A. Jul 15 2008;146A(14):1820-4. [Medline].

  8. Kroon ND, Smith F, Sanghavi R, Sarkar P. Prenatal cortical hyperostosis (Caffey disease) with Down syndrome. J Obstet Gynaecol. Jan 2009;29(1):57-8. [Medline].

  9. Cho TJ, Moon HJ, Cho DY, Park MS, Lee DY, Yoo WJ. The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). J Hum Genet. 2008;53(10):947-9. [Medline].

  10. Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. Mar 2007;71(3):280-4. [Medline].

  11. Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest. May 2005;115(5):1250-7. [Medline].

  12. Glorieux FH. Caffey disease: an unlikely collagenopathy. J Clin Invest. May 2005;115(5):1142-4. [Medline].

  13. Al Kaissi A, Petje G, De Brauwer V, Grill F, Klaushofer K. Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature. Cases J. Feb 9 2009;2(1):133. [Medline].

  14. Herring JA, ed. Infantile cortical hyperostosis. Tachdjian's Pediatric Orthopaedics. 3rd ed. Philadelphia, Pa: WB Saunders Co; 2002:1561-5.

  15. 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].

  16. Kovacic K, Hajnzic TF, Roncevic S, et al. Mandibular Caffey's disease--case report. Coll Antropol. Mar 2007;31(1):359-61. [Medline].

  17. Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. Mar 2007;71(3):280-4. [Medline].

  18. Blank E. Recurrent Caffey's cortical hyperostosis and persistent deformity. Pediatrics. Jun 1975;55(6):856-60. [Medline].

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