Caffey disease (Infantile cortical hyperostosis): A diagnostic challenge

Abstract

Caffey Disease is a rare, autosomal dominant, self-limited disorder characterized by irritability, massive subperiosteal hyperostosis, and adjacent soft tissue inflammation. Associated systemic symptoms may include fever, anorexia, and pseudoparalysis secondary to pain. A healthy six-day-old female newborn presented to the emergency department with irritability and maternal perception of pain, redness and swelling of the left leg, with no history of trauma. Family history was unremarkable, and pregnancy was monitored and full-term, with an uneventful delivery. On examination, she was afebrile and exhibited pseudoparalysis of the left limb. X-ray imaging of the left leg revealed an apparent bone callus on the tibia with marked periosteal reaction without evidence of fracture. Laboratory workup, including complete blood count and biochemical analysis, yielded normal results. Over the course of follow-up, the infant showed progressive clinical improvement despite persistent radiographic abnormalities. After case discussion with a reference center, a diagnosis of Caffey Disease was proposed and confirmed through genetic testing. At three years of age, she remains asymptomatic, with radiographic evidence of improved hyperostosis, although tibial Antecurvatum persists. She maintains routine follow-ups with Pediatric Orthopedics and her General Practitioner. This case report highlights the importance of recognizing this rare disorder, which, despite its apparently benign course, presents significant challenges in differential diagnosis, including child abuse, tumors, metabolic disorders and infectious diseases. It also underscores the critical role of a multidisciplinary approach to diagnosing and managing Caffey Disease.