PEDBASE.org - The Pediatric Database - Detailed information of CAFFEY DISEASE

CAFFEY DISEASE

DEFINITION:

A disorder of unknown etiology characterized by the triad of hyperirritability, soft tissue swelling, and cortical hyper-ostosis (also called Infantile Cortical Hyperostosis).

EPIDEMIOLOGY:

incidence: 48/100,000
age of onset:
- usually around 9 wks and rarely after 5 months of age
risk factors:
- sporadic - most cases
- familial - autosomal dominant with incomplete penetrance and variable expression in some
- chrom.#: ?
- gene: ?
M = F

PATHOGENESIS:

1. Etiology

unknown but several hypotheses
- inherited defect of the periosteal arterioles
- response to a viral infection
- cow's milk allergy
- endogenous prostaglandin disturbance

PATHOLOGY:

1. Bone

initially inflammation of the periosteum and surrounding soft tissue leading to thickened periosteum and subperiosteal immature lamellar bone (cortical hyperostosis) with vascular fibrous tissue infiltrating the bone marrow at the affected site
- bones affected
80% - mandible
50% - clavicle
others - ulna, tibia, scapulae, ribs
occasionally - humerus, fibula, femer
more than one bone is usually affected and is not symmetrical
swelling may resolve in one site and arise at another
defects have been noted as early as 24 weeks in utero

CLINICAL FEATURES:

1. Constitutional

hyperirritability
fever

2. Musculoskeletal Manifestations

swelling of soft tissues over the affected area (usually the face and/or jaw) characterized by
- pain
- sudden onset
- deep and firm
- no erythema, warmth, or discolouration over site
- exacerbations and remissions
very rarely may get long-term complications
- residual deformities of affected site
  - fusion of adjacent bones
  - anterior bowing of tibia or femur
  - lower limb length discrepancy
  - persistent facial asymmetry

INVESTIGATIONS:

1. Serum

mildly elevated alkaline phosphatase and ESR +/- anemia, thrombo-cytopenia, and elevated IgA and IgM

2. Imaging Studies

1. Skeletal X-rays

Cortical Hyperostoses
- subperiosteal new bone formation with progressive cortical thickening and widening of the long and flat bones
- initially the external surface of the new bone is coarse and the underlying cortex is visible but as the disease progresses, the density of the new bone increases and becomes homogeneous with the underlying cortex
- soft tissue swelling noted over the affected site
- affected areas confined to the diaphysis while the metaphysis and epiphysis are spared

MANAGEMENT:

1. Supportive

symptomatic - fever

2. Medical

1. Corticosteroids

relieves symptoms during exacerbations but has no effect on the bony changes
can produce symptomatic remission within 3 days and symptoms may relapse if steroid discontinued

2. NSAIDs

useful if prostaglandin excess is involved
ASA, indomethacin

3. Prognosis

self-limiting with spontaneous remission usually by the end of the first year
normal life span and intelligence
rare chronic and late-onset cases

Pediatric Database - CAFFEY DISEASE

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