Fact-sheet: Infantile cortical hyperostosis
  • Caffey disease


Updated on 10/17/2024 at 8:57 AM

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Definition

Infantile cortical hyperostosis = Caffey disease = infantile condensing osseous dysplasia, is a rare constitutional bone disease of infancy:

  • caused by a mutation in the COL1A1 gene on chromosome 17, sporadic or familial,
  • and characterized by regular cortical thickening of the long bones associated with irritability and inflammatory swelling of the limbs.

Clinical features

Rare: 1/500,000 births

Irritability, fever, pain, sometimes pallor

Inflammatory swelling of the limbs

Familial form:

  • antenatal form, autosomal recessive inheritance, usually incompatible with life
  • infantile form, autosomal dominant inheritance. Onset between 6-8 weeks of life.
  • Preferential involvement of the tibiae.
  • Evolves with painful flares lasting 2 weeks to 2 months and resolves spontaneously within 2 years.
  • Symptomatic treatment.
  • Possible complications: pseudoparalysis of the upper limb, pleural effusion, dysphagia.
  • Possible sequelae: deformity, hyperostosis.

Sporadic form: Onset between 9-11 weeks of life. Preferential involvement of the mandible

Laboratory findings

Discrete laboratory abnormalities: mild elevation of ESR, mild anemia

Radiography

  • Thick, homogeneous, bilateral and asymmetric cortico-periosteal thickening of the diaphyses +/- bowing
  • Preferential locations: mandible, tibia, clavicle, femur, ulna...
  • Epiphyses are spared
  • Normal bone mineralization

Ultrasound

Antenatal detection possible of a regular, abnormally echogenic thickening of the cortices, with bowing and shortening of the affected long bones.

Differential diagnosis

Non-accidental trauma: different clinical context, corner (bucket-handle) epiphyseal avulsion fractures, sequelae of fractures of different ages, posterior rib arc fractures, spiral fractures before walking age

Chronic osteomyelitis: possible cortical thickening from incorporation of periosteal reaction

Osteogenesis imperfecta: often associated with bowing of the long bones. Diffuse bone demineralization and thinned cortices. Fracture sequelae.

Scurvy: possible calcified subperiosteal hematomas. Diffuse bone demineralization. Involvement of the epiphyses and metaphyses.

Exogenous hypervitaminosis A: never before 6 months. spares the mandibles.

Prostaglandin treatment for congenital heart disease