Caffey disease

Caffey disease

Caffey disease (MIM 114000) including infantile and prenatal cortical hyperostosis is an autosomal dominant disorder.  It is characterized by massive subperiosteal bone formation.  Caffey disease has a variable prognosis that is dependent on the age of presentation.  Infantile cortical hyperostosis is a benign disorder usually presenting before 5 months of age.  The acute manifestations in infantile cortical hyperostosis are typically inflammatory in nature with painful swelling of the involved bone accompanied by fever, elevated white blood cell count and elevated erythrocyte sedimentation rate.   The bones involved are variable but the tibia has been reported to be affected in many patients.  Although some adult patients with infantile cortical hyperostosis have been described, it often spontaneously resolves before two years of age.   Adult patients have also been described with the Ehlers-Danlos like symptoms of joint laxity, hyperextensible skin and inguinal hernia. In contrast to the infantile presentation, prenatal cortical hyperostosis is a lethal disorder.  When detected prenatally, Caffey disease or prenatal cortical hyperostosis, may be confused with lethal osteogenesis imperfecta.  In addition to cortical hyperostosis, angulation of long bones and irregularities of the ribs may be visualized. Polyhydramnios, anasarca and pulmonary hypoplasia are also clinical features of prenatal cortical hyperostosis.  The infantile form and at least some cases of the prenatal form of cortical hyperostosis are caused by a specific mutation in the COL1A1 gene.