Soft Tissue Swelling in an Infant: What is the Diagnosis?

Abstract

Caffey’s disease also known as Infantile Cortical Hyperostosis is a rare, self-limited disease, that usually appears between birth and 6-months-old. It can be inherited as an autosomal dominant trait. However, sporadic forms and incomplete penetrance have been reported. The diagnosis is made by the triad of soft tissue swelling and underlying cortical bone thickening (hyperostosis), systemic symptoms and the changes in the X-ray. Molecular genetic testing is also available. Treatment is symptomatic.
The authors describe one infant with the classical form of Caffey’s disease and its management.