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Caffey disease in an infant.

Anupama Tandon¹, Fozia Raza², Rajesh Tandon³

¹Radiodiagnosis, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.

BMJ Case Reports

|November 20, 2024

Summary

Caffey disease, a rare condition, presented as irritability and swelling in an infant. Early diagnosis is crucial for managing infantile cortical hyperostosis.

Keywords:

Musculoskeletal and joint disorders Paediatrics Pathology Radiology Vitamins and supplements

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Area of Science:

Pediatrics
Medical Imaging
Genetics

Background:

Infantile cortical hyperostosis, also known as Caffey disease, is a rare disorder characterized by bone inflammation and swelling.
It typically affects infants and young children, presenting with characteristic bone lesions and soft tissue swelling.

Observation:

A previously healthy infant presented with irritability, left shoulder swelling, and restricted arm movement over 5 months.
Physical examination revealed a large, firm, tender mass in the left scapular region with overlying normal skin.
Imaging demonstrated left scapular hyperostosis and surrounding soft tissue swelling.

Findings:

Differential diagnosis excluded osteomyelitis, sarcomas, trauma, and hypervitaminosis A.
The clinical and imaging findings were consistent with Caffey disease (infantile cortical hyperostosis).

Implications:

Caffey disease, though rare, must be considered in the differential diagnosis of bony swelling in infants.
Prompt recognition and diagnosis are essential for appropriate management and to rule out more serious conditions.