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Caffey disease

Orpha number ORPHA1310
Synonym(s) Infantile cortical hyperostosis
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • M89.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Caffey disease is a rare condition which presents most commonly in infants. It is characterized by irritability, pain, tenderness, hyperaesthesia, soft tissue swelling and redness involving one or several areas of the body. Systemic changes with fever are usually present in the early stages. The pain may be severe enough to result in pseudoparalysis and individual nerve involvement may result in true localized palsies. Other reported clinical findings include dysphagia and nasal obstruction. Inheritance is thought to be autosomal dominant in some cases. However the incidence of the disease appears to fluctuate and other environmental effects may exert an influence. An underlying viral aetiology has been implicated. The clinical course is variable and unpredictable but the acute symptoms usually resolve over the course of a few months and the outcome is good with spontaneous resolution. Relapses may sometimes occur several years later. Radiographic examination reveals periosteal new bone formation that can be quite florid and subsequently becomes compact causing pronounced cortical thickening. Management is essentially palliative, aimed at pain relief. However, some authors claim a good response to high-dose immunoglobulin. Corticosteroids have been used to hasten bone remodeling.

Expert reviewer(s)

  • Pr Christine HALL

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Detailed information

Clinical genetics review
  • EN (2012)
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