Caffey Disease Imaging

Updated: Oct 29, 2015
  • Author: Bonnie C Davis, MD; Chief Editor: Eugene C Lin, MD  more...
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Overview

Overview

Caffey disease, or infantile cortical hyperostosis, is a benign, rare, proliferating bone disease affecting infants. Caffey and Silverman first reported this disease as a distinct entity in 1945. [1]

Classically, Caffey disease occurs in the early part of the first year of life (< 5 mo). It is characterized by a clinical triad (fever, soft-tissue swelling, hyperirritability) and a clinching radiographic picture of underlying cortical hyperostosis (thickening or bony expansion). In addition to the skeleton, the adjacent fascia, muscles, and connective tissues are also involved. [2, 3]

Some have suggested that Caffey disease has a predilection for patients with immunodeficiency disorders. [4, 5, 6] The skeletal effects of Caffey disease are demonstrated in the images below.

Frontal view of the mandible shows diffuse soft-ti Frontal view of the mandible shows diffuse soft-tissue swelling (lower arrow on the right), right mandibular cortical thickening due to periosteal new bone formation (middle 2 arrows on the right), and mild bony proliferation of the left mandible (arrow on the left). Courtesy of Clifton Leftridge, Jr, MD.
Frontal view shows cortical thickening of the mand Frontal view shows cortical thickening of the mandible, which is depicted as a double contour of the cortex due to subperiosteal new bone formation.

Two forms of Caffey disease have been described: prenatal and infantile. The prenatal form is rare and has a poor prognosis.

The prenatal form has been described as a more severe, congenital form of Caffey disease that is probably inherited as an autosomal recessive trait. Patients present with major angulation of the long bones, generalized symmetrical involvement of the skeleton, and polyhydramnios. Because the prenatal form is a rare presentation of Caffey disease, the remaining discussion in this article, except in the differential diagnostic section, pertains to the more common, infantile form. [7, 8]

Hyperostosis has also been reported in patients receiving therapeutic doses of prostaglandin E. Prostaglandins E1 and E2 maintain patency of the ductus arteriosus in infants born with ductus-dependent cyanotic congenital heart disease. This treatment helps to provide adequate time for the infant to mature in preparation of surgical intervention. However, cortical hyperostosis can occur as a complication of long-term treatment (4-6 wk). The bony changes appear to be dose and duration dependent. Regression of the bony changes occurs on the discontinuation of treatment. [9, 10]

Overall, the age of onset, clinical signs, laboratory results, and typical radiographic features are the clues leading to the correct diagnosis of Caffey disease. [1, 11]

Three pathologic phases of the skeletal and soft-tissue manifestations of Caffey disease have been described: early, subacute, and late.

Early phase

The early phase is characterized by an acute intraperiosteal inflammatory reaction consisting of edema and cellular infiltration, with subsequent thickening of the periosteum. The inflammatory process can extend into the neighboring soft tissues, and cortical resorption may be present.

Subacute phase

In the subacute phase, inflammation diminishes, the periosteum thickens, and ossifying periostitis subsequently develops. Beneath the periosteum, layers of immature lamellar bone are produced; these can be exuberant in nature. Bony deposition may occur in the neighboring soft tissues.

Late phase

The late phase involves the removal of peripheral bone, beginning along the inner surface and extending outwardly. Cortical remodeling may also be observed.

Preferred Examination

The general radiographic findings of Caffey disease reflect the features described below.

The bones most commonly affected are flat bones: mandible (75% involvement), clavicle, rib (especially the lateral arches), scapula, skull, and ilium.

The tubular bones most commonly affected are the ulna bones, which usually show asymmetrical involvement.

Bones rarely affected are the vertebrae, carpus, tarsus, and phalanges. Symmetrical or asymmetrical distributions may be observed, and involvement can be monostotic and polyostotic. Tubular-bone involvement affects the diaphysis and spares the metaphysis and epiphysis.

The scapula is altered in 10% of cases, and any associated with exuberant hyperostosis may resemble neoplasm. Scapular involvement is also associated with neurologic deficit and diaphragmatic elevation.

When the ribs are affected, costal hyperostosis can be associated with an ipsilateral exudative pleural effusion. Bony rib fusion may occur and lead to scoliosis. In the forearm, when both the radius and ulna are affected, bony fusion is a particular risk, and the resulting synostosis may persist after the disease resolves.

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Radiography

Plain radiographs may show soft-tissue swelling and/or cortical hyperostosis (with doubling or tripling of the normal width of the bone). The periosteal reaction progresses to subperiosteal new bone formation.

Radiographic findings can range from a subtle indistinctness of the cortical margin (mild periosteal reaction) associated with soft-tissue swelling to a thick bony cloaking of the diaphysis of long bones. [12, 13]

Although Caffey disease is an abnormality of bone formation, destructive lesions of the skull or tubular bones have been identified.

The radiographic features of Caffey disease are demonstrated in the images below.

Frontal view of the mandible shows diffuse soft-ti Frontal view of the mandible shows diffuse soft-tissue swelling (lower arrow on the right), right mandibular cortical thickening due to periosteal new bone formation (middle 2 arrows on the right), and mild bony proliferation of the left mandible (arrow on the left). Courtesy of Clifton Leftridge, Jr, MD.
Frontal view shows cortical thickening of the mand Frontal view shows cortical thickening of the mandible, which is depicted as a double contour of the cortex due to subperiosteal new bone formation.
Oblique (top row) and lateral (bottom row) views o Oblique (top row) and lateral (bottom row) views of the mandible show cortical thickening and bony expansion. Courtesy of Clifton Leftridge, Jr, MD.
Frontal view of the chest shows diffuse cortical t Frontal view of the chest shows diffuse cortical thickening of the upper left clavicular border with a localized fusiform bony component in the midportion of the bone. There is also new bone formation involving the left scapula with diffuse sclerosis and marginal irregularity. Courtesy of Clifton Leftridge, Jr, MD.
Frontal view shows deformity of the left scapula, Frontal view shows deformity of the left scapula, which is enlarged and densely sclerotic. Courtesy of Clifton Leftridge, Jr, MD.
Lateral view of the left scapula in the same patie Lateral view of the left scapula in the same patient seen in the previous image. Cortical irregularity consistent with hyperostosis is evident on this view. Courtesy of Clifton Leftridge, Jr, MD.
Pelvis and femora. The diaphysis of the right femu Pelvis and femora. The diaphysis of the right femur is completely encased by a thick deposition of laminated subperiosteal new bone formation. Consequently, the cortex widens, resulting in cortical hyperostosis. Note that the epiphysis and metaphysis have been spared. Courtesy of Clifton Leftridge, Jr, MD.
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Magnetic Resonance Imaging

Findings

T1- and T2-weighted magnetic resonance imaging (MRI) scans reveal the periosteal reaction in Caffey disease, which appears prior to the characteristic radiographic findings of hyperostosis.

MRI provides excellent differentiation between bone and soft tissues. The modality also allows an evaluation of the extent of soft-tissue involvement, which includes edema. Soft-tissue edema has decreased signal intensity on T1-weighted images and increased signal intensity on T2-weighted images. Marrow edema has increased signal intensity on T2-weighted MRI.

Degree of Confidence

Compared with plain radiography overall, MRI adds little important additional information for the clinical evaluation of Caffey disease, but it is useful when infection or neoplasia are considered more likely diagnoses.

MRI may be used to exclude subperiosteal hemorrhage; however, it is rarely used in this way. MRIs depict hemorrhage with subsequent new bone formation, as seen with differential diagnoses (eg, trauma, scurvy).

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Ultrasonography

Findings

Soft tissue may be easily identified with ultrasonography, which is easy to perform on infants. Early periosteal new bone formation is also easily visualized with high frequency (10-14 MHz) transducers.

Degree of Confidence

A soft-tissue mass would have nonspecific appearances and could not reliably exclude infection or neoplasia.

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Nuclear Imaging

Findings

The distribution of radiotracer accumulation is similar with bone and gallium scans. Accumulation of the radiopharmaceutical in the involved bones is markedly increased during the active phase of the disease.

The characteristic "bearded-child" appearance is due to the intense and diffuse abnormal accumulation of radiotracer in the mandible.

Degree Of Confidence

Nuclear medicine scans are positive before radiographic signs develop. In addition, nuclear medicine studies may be useful for documenting the extent of skeletal involvement.

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CT Scanning

CT scanning findings in Caffey disease include the following: soft-tissue swelling; periosteal reaction (ossifying periostitis), which can progress to abundant subperiosteal new bone formation; and cortical thickening (cortical sclerosis due to the deposition of new bone). CT scanning is seldom necessary and is generally avoided because of its high radiation burden. [14]

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