Infantile cortical hyperostosis

Definition:

Infantile cortical hyperostosis (ICH) is a self-limiting inflammatory disease characterized by swelling of soft tissues and periosteal hyperostosis mainly affecting long bones, mandible, clavicles, and ribs. It usually affects infants less than 6 months of age and spontaneously heals in the first year of life. However severe prenatal form of ICH is lethal in which extensive hyperostosis affects nearly all long bones and the fetus presents with polyhydramnios.

References:

[1]. Agnès Kamoun-Goldrat, et al. Infantile cortical hyperostosis (Caffey disease): a review. J Oral Maxillofac Surg. 2008 Oct;66(10):2145-50. [Content Brief]

[2]. Agnès Kamoun-Goldrat, et al. Prenatal cortical hyperostosis with COL1A1 gene mutation. Am J Med Genet A. 2008 Jul 15;146A(14):1820-4. [Content Brief]

[3]. Paola Cerruti-Mainardi, et al. Infantile cortical hyperostosis and COL1A1 mutation in four generations. Eur J Pediatr. 2011 Nov;170(11):1385-90. [Content Brief]

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