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Caffey Disease
Thursday, 26 August 2004
Tuesday, 23 November 2004
Infantile Cortical Hyperostosis

What

Caffey disease is a rare condition which presents most commonly in infants. It is characterized by a triad of symptoms including boney changes, soft tissue swelling and irritability. In Caffey disease an inflammatory process of unknown cause occurs, leading to the abnormal changes in the bone and the surrounding soft tissues. Caffey disease is thought to exist in two forms, familial (inherited genetic disorder) and sporadic (new genetic change occurring in an individual).

Who

Caffey disease occurs in infants. Exactly how often this disorder occurs is not known, but it is estimated to occur in approximately 3 out of every 1000 infants. Caffey disease occurs equally in both males and females and it can occur in children from all ethnic backgrounds.

Signs and Symptoms

Children with Caffey disease usually have the following three symptoms:

  • Irritability
  • Soft tissue swelling
  • Thickening of the outer layer of the bone (bones most frequently involved are: jaw bone, forearm, lower leg, collar bones, shoulder blades, and ribs). This thickening may lead to doubling or tripling of the normal width of the bone.
The following symptoms may also be present:
  • Fever
  • Loss of appetite
  • Pain
  • Malaise (a feeling of general discomfort or uneasiness)
  • Redness of the skin

Possible Causes

The exact cause of Caffey disease is unknown. It is thought that this is a genetic disorder caused by a change in a gene. This genetic change can be inherited from a parent or it can be a new change that affects only the individual child. When this disorder affects multiple family members it usually follows an autosomal dominant inheritance pattern. This means that a parent with the disease has a 50% chance of passing on the changed gene to his or her child.

Diagnosis

A diagnosis of Caffey disease can be suspected based on the signs and symptoms described above being found on physical examination. An x-ray of the bones is the most valuable diagnostic study. X-rays can show the new layers of bone formation and also the soft-tissue swelling.

Treatment

No specific treatment exists for Caffey disease. Medications that treat inflammation, such as corticosteroids and NSAIDS, may be given to help relieve the symptoms associated with this disease.

Prognosis

The prognosis for children with Caffey disease is good. The disease is self limited and resolves without medical treatment in 6 to 9 months. Eventually, the bone remodels and resumes a normal appearance. Children with Caffey disease have a normal life expectancy without further complications related to the disease.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

E-Radiography
This site contains general information about Caffey Disease and an x-ray of an affected child.

Orphanet
This site has general information on the disease with links to articles and outpatient clinics.

Google Search for Caffey Disease

References and Sources

1. Novick, C. (2004) Infantile Cortical Hyperostosis www.emedicine.com/orthoped/topic151.htm 2. www.findarticles.com/p/articles/mi_m0689/is_n4_v42/ai_18356256