Caffey disease

Caffey disease or infantile cortical hyperostosis a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability.

A rare variant known as prenatal onset cortical hyperostosis, is also reported and it is severe and fatal.

Children usually presents within first 6 months with swelling, erythema and irritability. 

Pathology

The exact aetiology is not well known - both familial and sporadic forms appear infrequently. 

Location

The mandible, ulna and clavicle are most common sites. Other long bones, ribs, scapula and skull may also be rarely involved.

Serological markersMarkers

Erythrocyte sedimentation rate (ESR) and alkaline phosphatase levels(ALP) levels are often elevated. The combination of clinical picture and the lab findings along with imaging findings can clinch the diagnosis.

Radiographic features

Plain film

May show lamellated periosteal reactions along with soft tissue swelling. Classic picture involves the ulna, clavicle or mandible. Over a period of time the bone remodels itself and normal picture returns.

MRI 

May show the periostitis with soft tissue edema. At times MR may may give confusing appearances and can lead the radiologist to give alternate diagnosis. Hence radiography should be the primary modality of investigation and follow up.

Ultrasound 

Can depict the periostitis and soft tissue edema. It can depict the changes antenatally also.

History and etymology

Caffey first described infantile cortical hyperostosis, hence known as Caffey disease in 1945.

Differential diagnosis

• osteomyelitis
• trauma
• hypervitaminosis A
• hyperphosphataemia
• prostaglandin E1 and E2 administration
• infection (including syphilis)
• metastatic neuroblastoma.

Other diseases can usually be excluded based on the narrow age range for presentation of infantile cortical hyperostosis; the triad of irritability, swelling, and bone lesions; and the presence of mandibular involvement