Medicine:Infantile cortical hyperostosis
Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. The disease may be present at birth or occur shortly thereafter. The cause is unknown. Both familial and sporadic forms occur. It is also known as Caffey disease or Caffey's disease.
It has been associated with COL1A1.
The disease has been reported to affect 3 per 1000 infants younger than 6 months in the United States. No predilection by race or sex has been established. Almost all cases occur by the age of 5 months. The familial form is inherited in an autosomal dominant fashion with variable penetrance. 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. The average age at onset for the sporadic form is 9–11 weeks.
Cortical hyperostosis is a potential side effect of long-term use of prostaglandins in neonates.
Dr. John Caffey (1895–1978) first described infantile cortical hyperostosis in 1945. He described a group of infants with tender swelling in the soft tissues and cortical thickenings in the skeleton, with onset of these findings during the first 3 months of life. Dr. Caffey was regarded throughout the world as the father of pediatric radiology. His classic textbook, Pediatric X-Ray Diagnosis, which was first published in 1945, has become the recognized bible and authority in its field.
- "Prenatal cortical hyperostosis with COL1A1 gene mutation". Am. J. Med. Genet. A 146A (14): 1820–4. July 2008. doi:10.1002/ajmg.a.32351. PMID 18553566.
- Lewis AB, Freed MD, Heymann MA, Roehl SL, Kensey RC (1981). "Side effects of therapy with prostaglandin E1 in infants with critical congenital heart disease". Circulation 64 (5): 893–898. doi:10.1161/01.cir.64.5.893. PMID 7285304.
- Caffey J (November 1946). "Infantile cortical hyperostoses". J. Pediatr. 29 (5): 541–59. doi:10.1016/S0022-3476(46)80122-7. PMID 21002859.
- Herring J, ed. "Infantile Cortical Hyperostosis". Tachdjian's Pediatric Orthopaedics. Philadelphia PA: WB Saunders. pp. 1561–5.
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