Caffey disease

Caffey disease: Description, Causes and Risk Factors:

Caffey disease is a rare condition which presents most commonly in infants. It is characterized by irritability, pain, tenderness, hyperaesthesia, soft tissue sweeling 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 palasies.

The exact etiology of this condition is still unknown. Most cases are sporadic, but a few familial cases with autosomal dominant and recessive patterns have been described. Among the proposed causes are, infections, immunological defects and genetic abnormalities. The discovery of a gene locus in 3 unrelated families with autosomal dominant inheritance (gene COLIAL, 17q21) which encodes Alfa-1 chain of Type I collagen, has raised some doubts whether some cases are a type of Collagenopathy, like Osteogenesis imperfect. Similar conditions have also been reported following prolonged treatment with Prostaglandin E1 for maintaining ductal patency in infants with cyanotic heart disease.

caffey disease

The existence of two forms of Caffey disease has been suggested, a classical mild infantile form (ICH) delineated by Caffey and Silverman and a severe form with prenatal onset. The condition has been described as rare with no sex or racial predilection. The incidence of the disease appears to fluctuate and other environmental effects may exert an influence. Although the exact incidence of the more common classic form of ICH is unknown, there is a world wide decrease in the number of cases particularly the non-familial form. A total of 44 cases have been reported with the severe prenatal onset of Cortical Hyperostosis. The classic form has an onset within the first 6 months of life. The manifestations include irritability, swelling of the overlying soft tissue that precedes the cortical thickening of the underlying bones, fever and anorexia. The swelling is painful with a wood like induration but with no redness or warmth, thus suppuration is absent. Mandible is the most commonly involved site followed by scapula, clavicle, ribs and long bones. There are usually no other signs and symptoms. Isolated cases of facial nerve palsy and Erb's palsy have been reported in the literature. The pain can be severe and can also result in pseudo paralysis.

Symptoms:

The most striking feature of Caffey disease is the presence of soft tissue swellings that are deeply placed in relation to the bone involved. Additionally, cortical thickening of the affected bone is also present. These swellings usually start to appear within 90 days of birth although in some cases the condition may present itself as late as two years after birth. The mandible and the clavicle or the collarbones are the ones more frequently affected. The presence of facial swelling is considered pathognomic of the disease but these are not those well-defined in the inherited or familial form of the disease. The ribs, tibia, scapula and the calvarium are the bones affected in the familial form of the disease. The soft tissue swellings are invariably associated with deep muscles and occur most frequently on the neck, face, chest and the lower limbs. Other features associated with Infantile Cortical Hyperostosis are as follows:

Fever

When the mandible is involved there are thick swellings at the angle of the bone in what is called the ramus area. This gives a chubby appearance to the infant and is often mistaken for cherubism. It leads to malocclusion, where the teeth are not properly aligned in relation to each other, resulting in a grotesque appearance in early childhood.

Diagnosis:

Radiography is the most valuable diagnostic study in Caffey disease.Cortical new bone formation (Cortical Hyperostosis) beneath theregions of soft tissue swelling, which is the characteristic feature.While no laboratory tests are specific for diagnosis of Caffey disease, theimportant differential diagnosis that are to be excluded areosteomyelitis, chronic hypervitaminosis A, bone tumor, scurvy,child abuse and prolonged PGE1 infusion.Awareness of theexistence of this rare condition and its typical clinicoradiologicalprofile will avoid the patient being subjected to unnecessaryinvestigation.

Treatment:

Caffey disease is mostly self-limiting and resolves within six months to one year and may not need any treatment. However, Indomethacin or Naproxen could be used in really symptomatic cases. Steroids can be administered if there is poor response to Indomethacin. In many case, Ibuprofen was used and the outcome appeared to be satisfactory. In some cases, the bone lesions can recur suddenly at their original sites or at newer sites and can have an unpredictable clinical course with remissions and relapses. Hence, relapse can happen several years later.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

2 Comments

  1. Leslie

    I was diagnosed with Caffey’s disease as a baby. I am now 57 years old. I have neurological symptoms and have had for years but no physician has been able to find the cause. Are there residual affects from this disease as an adult?

    Reply
    • maisteri

      Caffey disease do not cause any residual neurological symptoms. Adults who were diagnosed with Caffey disease during infancy may experience hernias, joint laxity and skin hyperextensibility.
      What symptoms are bothering you now?

      Reply

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