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Caffey Disease.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2012 Aug 2 [updated 2012 Nov 29].

Excerpt

CLINICAL CHARACTERISTICS:

Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, joint swelling, and pain in children, with onset around age two months and spontaneous resolution by age two years. On rare occasion, the hyperostosis can be detected by ultrasound examination late in the third trimester of pregnancy. Limited follow-up information suggests that adults who had Caffey disease in childhood may manifest joint laxity, skin hyperextensibility, hernias, and an increased risk for bone fractures and/or deformities.

DIAGNOSIS/TESTING:

Radiologic findings of subperiosteal cortical hyperostosis of the diaphyses of the long bones (with sparing of the epiphyses), ribs, scapulae, clavicles, and mandible in a child age two months to five years suggest the diagnosis. The COL1A1 variant c.3040C>T (p.Arg1014Cys; also known as p.Arg836Cys) in exon 41 is the defining pathogenic variant currently identified in all individuals with Caffey disease undergoing molecular genetic testing. Although allelic and/or locus heterogeneity are possible, neither has been observed to date.

MANAGEMENT:

Treatment of manifestations: Anti-inflammatory agents, antipyretics, and analgesics can be used in the short term to decrease swelling and fever and to relieve pain. Surveillance: Currently, no standard surveillance protocols exist; however, yearly evaluation of linear growth, dental health, joint range of motion re extensibility, possible hernias, and fracture history is recommended.

GENETIC COUNSELING:

Caffey disease is inherited in an autosomal dominant manner. Some individuals diagnosed with Caffey disease have a parent who had Caffey disease in childhood; others have the disorder as the result of a de novo pathogenic variant. The proportion of cases caused by a de novo pathogenic variant is unknown. Each child of an individual who had Caffey disease in childhood has a 50% chance of inheriting the pathogenic variant. Prenatal testing for pregnancies at increased risk is possible if the pathogenic variant in the family has been identified.

Copyright © 1993-2016, University of Washington, Seattle. All rights reserved.

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