Infantile cortical hyperostosis
Summary
Self-limiting inflammatory bone disorder of infancy causing painful soft tissue swelling and subperiosteal new bone formation, classically involving the mandible.
Basics
- Typical age:
- Onset: infancy, usually <6 months
- Rarely congenital / in utero (more likely to associated with genetic mutation)
- Genetics:
- Sporadic or autosomal dominant
- Often associated with COL1A1 mutation in familial / severe forms (osteogenesis imperfecta spectrum)
Clinical
- Irritable, crying infant
- Painful soft tissue swelling over affected bones
- Low-grade fever common, but may be afebrile
- Decreased limb movement if long bones involved
- Mandibular involvement → feeding difficulty, drooling, facial swelling
- Systemically:
- May have raised inflammatory markers (ESR/CRP), mild leucocytosis
- Usually not septic-toxic (unlike osteomyelitis)
Clinical trap
Can be mislabelled as osteomyelitis or non-accidental injury, leading to unnecessary IV antibiotics, extensive septic workup, or even social/legal issues.
Imaging
Distribution
- Mandible (classic site)
- Clavicles
- Ribs
- May be combined with pleural effusion.
- Diaphyses of long bones (upper > lower limbs)
- Usually asymmetric and involving ulna
Epiphyses typically spared.
- Usually asymmetric and involving ulna
Radiographic features
- Subperiosteal new bone formation with:
- Cortical thickening / hyperostosis
- Diaphyseal predominant, often multifocal and relatively symmetric
- Adjacent soft tissue swelling
- No aggressive bone destruction or lytic lesion pattern
- Changes evolve over weeks–months, then remodel
Other modalities
- US: soft tissue thickening, periosteal elevation, increased vascularity
- MRI/CT: rarely required; confirm subperiosteal new bone and exclude other pathology
Radiologist job
- Recognise the pattern (age + mandibular/diaphyseal hyperostosis).
- Use the word “compatible with infantile cortical hyperostosis (Caffey disease)”.
- Explicitly comment that imaging does not suggest osteomyelitis or non-accidental injury if that is a concern.
Differential diagnosis
- Osteomyelitis
- Often metaphyseal, more focal, systemic sepsis more marked
- May show lytic lesions, abscess, sequestrum
- Non-accidental injury
- Fractures in various stages of healing, metaphyseal corner fractures, inconsistent history
- Distribution and pattern usually not simply diaphyseal hyperostosis
- Scurvy (older infants/children, dietary history)
- Hypertrophic osteoarthropathy (wrong age group)
- Bone tumours / leukaemia → lytic lesions, marrow changes, systemic features
Course and prognosis
- Self-limiting:
- Symptoms peak over weeks, resolve over months
- Bone changes remodel; mild cortical thickening may persist radiographically
- Long-term:
- Normal growth and function expected in most cases
- Rare deformity if very severe or untreated congenital cases
Management
- Mainly supportive:
- Analgesia (paracetamol/NSAIDs)
- Short course steroids in severe or refractory cases (specialist decision)
- Exclude serious differentials (osteomyelitis, abuse) clinically + imaging
- Consider genetics / metabolic workup if:
- Very early onset (in utero)
- Recurrent episodes
- Strong family history
- Features overlapping with connective tissue disease / OI spectrum
Key exam points
- Infant <6 months, painful swelling + irritability + mandibular / diaphyseal hyperostosis.
- Radiograph: subperiosteal new bone, diaphyseal, multifocal, no aggressive lysis.
- Diagnosis is clinical + radiologic; disease is benign and self-limiting.
- Recognising the pattern avoids unnecessary biopsy, prolonged antibiotics, and abuse accusations.
