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Infantile Cortical Hyperostosis

  • Author: Cara Novick, MD; Chief Editor: Harris Gellman, MD  more...
 
Updated: Dec 17, 2014
 

Background

In 1945, Caffey first described infantile cortical hyperostosis (Caffey disease), as shown in the image below, 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, 4, 5, 6] (Also see Caffey Disease Imaging.)

Radiograph from a 5-month-old infant with infantilRadiograph 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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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.[4]

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Epidemiology

Frequency

Infantile cortical hyperostosis has been reported to affect 3 per 1000 infants younger than age 6 months.[7] 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, 8] The average age at onset for the sporadic form of infantile cortical hyperostosis is 9-11 weeks. No race- or sex-based predilection has been established.

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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, Pediatric Orthopaedic Society of North America

Disclosure: Nothing to disclose.

Coauthor(s)

Dennis P Grogan, MD Clinical Professor (Retired), Department of Orthopedic Surgery, University of South Florida College of Medicine; Orthopedic Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa

Dennis P Grogan, MD is a member of the following medical societies: American Medical Association, American Orthopaedic Association, Scoliosis Research Society, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

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

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, Leonard M Miller School of Medicine, Clinical Professor, Surgery, Nova Southeastern 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, Arkansas Medical Society

Disclosure: Nothing to disclose.

Additional Contributors

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 College of Sports Medicine, Pediatric Orthopaedic Society of North America, American Association for the History of Medicine, American Orthopaedic Society for Sports Medicine, Massachusetts Medical Society

Disclosure: Received consulting fee from Smith & Nephew Endoscopy for consulting; Received consulting fee from EBI Biomet for consulting; Received consulting fee from OrthoPediatrics for consulting; Received stock from Pivot Medical for consulting; Received consulting fee from pediped for consulting; Received royalty from WB Saunders for none; Received stock from Fixes-4-Kids for consulting.

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. 1995 Oct. 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. 1982 Jan. 136(1):55-60. [Medline].

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

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

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

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

  8. Shannon FJ, Murphy M, Atchia I, Phelan E, Fogarty EE. Caffey's disease: an unusual cause for concern. Ir J Med Sci. 2007 Jun. 176(2):133-6. [Medline].

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

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

  11. 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. 2008 Jul 15. 146A(14):1820-4. [Medline].

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

  13. 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].

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

  15. 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. 2005 May. 115(5):1250-7. [Medline].

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

  17. Cerruti-Mainardi P, Venturi G, Spunton M, Favaron E, Zignani M, Provera S, et al. Infantile cortical hyperostosis and COL1A1 mutation in four generations. Eur J Pediatr. 2011 Nov. 170(11):1385-90. [Medline]. [Full Text].

  18. Kitaoka T, Miyoshi Y, Namba N, Miura K, Kubota T, Ohata Y, et al. Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature. Eur J Pediatr. 2014 Jun. 173(6):799-804. [Medline].

  19. Nemec SF, Rimoin DL, Lachman RS. Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia]. Eur J Radiol. 2012 Apr. 81(4):e565-72. [Medline].

  20. 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. 2009 Feb 9. 2(1):133. [Medline]. [Full Text].

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

  22. Navarre P, Pehlivanov I, Morin B. Recurrence of infantile cortical hyperostosis: a case report and review of the literature. J Pediatr Orthop. 2013 Mar. 33(2):e10-7. [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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