Caffey disease in an infant

BMJ Case Rep. 2024 Nov 19;17(11):e261909. doi: 10.1136/bcr-2024-261909.

Abstract

A previously healthy female infant was brought to the paediatrics outpatient department by her mother reporting increased irritability and swelling behind her left shoulder, accompanied by restricted movement in her left arm. The irritability had been present for the past 5 months, with swelling also noticed at that time, gradually increasing in size. On examination, a large, firm, immobile mass was detected on the left scapular region. The mass was tender to touch, without any hardening or induration of the overlying skin. The child was afebrile, and her vital signs were stable. Subsequent imaging revealed hyperostosis in the left scapula, along with swelling of the surrounding soft tissue. After ruling out conditions such as chronic osteomyelitis, Ewing's sarcoma, rhabdomyosarcoma, trauma or child abuse, chronic recurrent multifocal osteomyelitis and hypervitaminosis A, the findings pointed to Caffey disease. Although infantile cortical hyperostosis, or Caffey disease, is rare, it should be considered in the differential diagnosis of a bony swelling in a young child.

Keywords: Musculoskeletal and joint disorders; Paediatrics; Pathology; Radiology; Vitamins and supplements.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Female
  • Humans
  • Hyperostosis, Cortical, Congenital* / diagnosis
  • Hyperostosis, Cortical, Congenital* / diagnostic imaging
  • Infant