How Do We Define Caffey Disease?
Caffey Disease which is also known by the name of Infantile Cortical Hyperostosis is a type of a disorder of the bones found mostly in babies.1 The main characteristic of Caffey Disease is uncontrolled formation of new bones. These abnormalities usually affect the bones of the jaw, shoulders, collarbones, and shafts of long bones in the extremities. Once the bones get affected by this disease they may become double or even triple their original width which can be visualized easily on x-ray images. In some cases, when there are two bones adjacent to each other like a pair of ribs or the long bones of the extremities they become fused together. Babies affected with Caffey disease also have swelling of joints and soft tissues along with pain and erythema in the affected areas. Such children often are irritable and feel feverish.
How Common is Caffey Disease?
Caffey Disease is quite rare and studies suggest that it affects about 4 in every 1000 child around the globe. Researchers are of the opinion that this disease is normally not diagnosed properly as in most of the cases it goes away as the child grows and with passage of time.
What Causes Caffey Disease?
Caffey Disease is caused by mutation of gene COL1A1. This gene functions by providing instructions to make a part of a large molecule known as collagen.2 Collagens are proteins which function by supporting and strengthening body tissues to include the cartilages, bones, tendons, and skin. This collagen is found in these areas in spaces around the cells. The molecules of the collagen are cross-linked in thin fibrils which are very flexible and strong.
What are the Symptoms of Caffey Disease?
If a child is affected with Caffey Disease the child will experience the following three main symptoms which are soft-tissue swelling, bone lesions, and irritability. The soft tissue swelling normally comes on all of a sudden. It is deep and firm. There will also be tenderness of the soft tissues. These lesions may affect several parts of the body to include the mandible, tibia, ulna, scapula, ribs, skull, and the metatarsals. If the mandible is affected the child may refuse to eat anything resulting in poor growth of the child.
How is Caffey Disease Diagnosed?
In majority of cases, Caffey Disease can be diagnosed with just a physical examination of the affected child. Imaging studies in the form of x-rays are ordered which will show bony changes as well as soft tissue swelling which again will confirm the diagnosis. The physician may then order a biopsy of the affected area which will show changes consistent with Caffey Disease. There are no specific blood tests to confirm the diagnosis of Caffey Disease, but if an ESR is checked it will show an elevated count along with elevated alkaline phosphatase levels. Anemia may also be present on CBC and also presence of high white blood cell count. All the above tests go a long way in confirming the diagnosis of Caffey Disease.
How Is Caffey Disease Treated?
Caffey Disease normally is a self-limiting condition and resolves on its own with the passage of time and no specific treatment is required. Corticosteroids and NSAIDS may be helpful in controlling the symptoms in severe cases.
Recovery and Prognosis of Caffey Disease
Normally, this condition takes around eight to nine months for complete recovery. In some cases an affected child may have bony fusions or limb length discrepancies although these cases are pretty rare due to Caffey Disease.