INFANTILE CORTICAL HYPEROSTOSIS

• Main Authors: Nika Morgan, Sara Bertok, Damjana Ključevšek, Karin Schara, Jana Lozar Krivec
• Format: Article
• Language: Slovenian
• Published: The Society for Children with Metabolic Disorders 2021-06-01
• Series: Slovenska pediatrija
• Subjects: caffey disease; collagen type 1; col1a1 gene mutation; newborn; bone disease; cortical hyperostosis
• Online Access: http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-2-06en.pdf

Infantile cortical hyperostosis or Caffey disease is a rare genetic disorder caused by a mutation in the collagen 1 gene. The mechanism of the disease has not yet been fully elucidated, but the most important factor in the pathogenesis and the consequence of the mutation is periosteal inflammation. The disease becomes clinically evident during the first months of life with asymmetrical bone thickening, most commonly in the mandible, clavicle, scapula, ribs, and long bones. Non-specific systemic inflammatory symptoms can also be present. X-ray imaging with demonstration of bone hyperostosis is essential for the diagnosis, which is confirmed by genetic testing. Treatment is symptomatic. The prognosis of the disease depends on the mode of inheritance. The autosomal recessive form, known as the prenatal form, has a poor prognosis. The autosomal dominant form or infantile Caffey disease usually resolves spontaneously without consequences before the age of two years. We present a case of a neonate with Caffey disease with proven COL1A1 gene mutation.