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Infantile Cortical Hyperostosis Clinical Presentation

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

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 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

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.[9, 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 metatarsal.

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Causes

Although the etiology of infantile cortical hyperostosis has not been fully elucidated, there is growing evidence of a genetic component.[10, 11]

Various studies have supported the finding that a heterozygous missense mutation (c.3040c→T [p.41014C]) in exon 41 in the type I collagen alpha1 chain gene (COL1A1) is responsible for this disease.[11, 12, 13, 14, 15, 16, 17] A link to lethal prenatal cortical hyperostosis has also been reported. Authors have noted that this places Caffey disease in the same family as type I collagen-related diseases such as osteogenesis imperfecta I-IV, Ehlers-Danlos syndromes type I and VII, idiopathic osteoporosis, and dermatofibrosarcoma protuberans.

Kitaoka et al conducted a mutation analysis of the COL1A1 and COL1A2 genes and measured bone mineral density in two patients with Caffey disease.[18] The patients came from two different families. The index patient and two clinically healthy members of that person's family were found to carry the common heterozygous mutation; no mutations of COL1A1 or COL1A2 were identified in the affected members of the second family.

Bone mineral density was normal in adult patients of both families who had had an episode of cortical hyperostosis, regardless of the presence or absence of the p.Arg1014Cys mutation.[18] The investigators concluded that Caffey disease is genetically heterogeneous and that affected and unaffected adult patients with or without the common COL1A1 mutation have normal bone mineral density.

Some have suggested that transmission may occur via an infectious agent with a long latency period. Other theories have included a primary arterial abnormality and allergic reaction.

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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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