Caffey disease

Caffey disease or infantile cortical hyperostosis a is 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 reportedsevere and fatal, though it is severe and fatalprobably a separate entity altogether.¹

Children usually present within the first sixfive months of life with tender and painful soft tissue swelling, erythema, fever, and irritability.

Pathology

The exact aetiologyCaffey disease is not well known - botha type I collagenopathy. Both familial and sporadic forms appear infrequentlyexist. There is evidence to suggest that the familial form is inherited in an autosomal dominant fashion with incomplete penetrance and varible expression.^2,3

Location

The mandible, ulna and clavicleflat bones are most common sites. Othercommonly affected:

• mandible: in 75-80% of cases)
• clavicles
• scapula: 10% of cases
• ribs: lateral aspect; ipsilateral pleural effusion may appear
• calvaria
• ilia

The ulnae are the long bones most commonly affected.

Lytic skull lesions have been reported.

The carpus, ribstarsus, scapulaphalanges and skull, may also bevertebral bodies are rarely involved.

Markers

Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and alkaline phosphatase (ALP) levels are often elevated. The combination of clinical picture and the, lab findings along with, and imaging findings can clinch theis sufficient for a diagnosis.

Radiographic features

Plain film

May show lamellated all or some of the following: ⁴

• periosteal reactionsreaction along with soft tissue swelling. Classic picture involves, either single-layered or lamellated
• subperiosteal cortical hyperostosis
• dense laminated subperiosteal new bone formation
• marked increase in cortical width and density
• in the ulnainvolved long bones, clavicle or mandible. Over a periodonly the diaphysis is affected, sparing the metaphysis and epiphysis; consequently, the bone remodels itselfbecomes spindle-shaped
• soft tissue swelling over the involved bones
• the mandible, clavicle, and normal picture returnsribs are most often affected, particularly in sporadic cases

Radiographic evidence of the disease may persist for years after resolution of clinical symptoms.

MRI 

MayCan show the periostitis withand soft tissue oedema. AtIt should be stressed that MRI usually does not offer much added-value in advancing the diagnosis ⁵, unless infection or neoplasia are high on the differential list; indeed, at times MR, MRI appearance may give confusing appearances and can leadconfound the radiologist to give an alternate diagnosis. Hence, radiography should be the primary modality of investigation and follow up-up.

Ultrasound 

Can depict the periostitis andidentify soft tissue oedema and early periosteal new bone formation. ItHigh-frequency transducers should be used.

Nuclear imaging

During the active phase of the disease, there is markedly increased radiotracer uptake in the involved bones, both on bone and gallium (Ga-67) scans. The "bearded infant" appearance refers to intense radiotracer uptake in the mandible. ⁶

Nuclear scans can illustratealso be useful for showing the changes antenatally alsoextent of skeletal involvement.

Treatment

As noted above, Caffey disease is self-limiting and resolves spontaneously. Palliative treatment consists of NSAIDs, e.g. indomethacin.

History and etymology

Paediatric radiologist John Caffey first described infantile cortical hyperostosis, hence known as Caffey disease with colleague WA Silverman in 1945.

Differential diagnosis

• osteomyelitis: there are reports of association with Caffey disease
• non-accidental injury
• trauma
• skeletal dysplasias with osteosclerosis
• hypervitaminosis A
• hypovitaminosis C (scurvy)
• hyperphosphataemia
• prostaglandin E1 and E2 administrationtherapy (for intentionally maintaining ductus arteriosus patency)
• infection (including(e.g. syphilis, tuberculosis)
• Ewing sarcoma
• metastatic neuroblastoma

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