What is Infantile Cortical Hyperostosis?
Infantile cortical hyperostosis (ICH), or Caffey disease as it’s also known, is a condition that affects the bone structure of infants. It was first found by Roske in 1930 and was described by Caffey and Silverman in 1945. The part of the baby’s body that ICH most commonly impacts is the mandible, or lower jaw, affecting it in about 70% to 90% of the cases. In these instances, the jawbone often shows signs of a response to injury or disease. However, ICH can also affect parts of the body such as the collarbone, ribs, lower part of the arm, shoulder bone, and, on rare occasions, the hip bones, skull, and foot bones.
The condition usually affects one side of the body when it involves the shoulder bone. The disease typically affects the long part of the bone and spares the ends. This pattern of infection often results in bones that have a spindle shape, or an elongated shape that is wide in the middle and tapers at the ends. Although the condition may seem grave, it generally corrects itself within two years without any medical intervention.
What Causes Infantile Cortical Hyperostosis?
Gensure and his team carried out a detailed genetic analysis on individuals with an inherited form of intracranial hypertension (ICH). They performed techniques to study, magnify and duplicate specific sections of DNA. Further investigation using a method known as gel electrophoresis, which helps sort DNA, confirmed that the people with this condition had a tiny change in the gene called COL1A1. This small change is known as a missense mutation.
Risk Factors and Frequency for Infantile Cortical Hyperostosis
ICH, or cortical hyperostosis, tends to not show up after a child turns one. When doctors take X-rays, they might notice thickening of the outer layer of bone and new bone growth beneath the outermost layer. Before a baby is born, there is a very severe form of the disease known as lethal prenatal cortical hyperostosis. This particular condition is inherited and appears before the 35 weeks of pregnancy.
- Polyhydramnios, a condition where there is too much amniotic fluid around the baby in the womb.
- Angular deformities of the long bones.
- Rib deformities.
- Premature birth.
- Lung disease.
These may all be signs of this severe prenatal form. However, the more common and less severe form appears after 35 weeks and is called the infantile or classical form of ICH. Ultrasound scans during pregnancy might show changes such as curved bones and deformities in the outer layer of bone, indicating ICH.
Signs and Symptoms of Infantile Cortical Hyperostosis
Infantile cortical hyperostosis (ICH) usually starts with sudden swelling in a baby’s face and jaw, accompanied by fever and fussiness. In some instances, the swelling begins in the arms or legs before spreading to the face. The swollen area often becomes hard, attaches to the bone, and becomes red and painful. Further symptoms can include eye infection, decreased movement, trouble eating leading to slow growth, and a pale complexion.
Infantile cortical hyperostosis (ICH) usually starts with sudden swelling in a baby’s face and jaw, accompanied by fever and fussiness. In some instances, the swelling begins in the arms or legs before spreading to the face. The swollen areas often become hard, attach to the bone, and become red and painful. Other symptoms can include eye infection, decreased mobility, difficulty with eating leading to slow growth, and paleness.
- Sudden face and jaw swelling
- Fever
- Fussiness
- Swelling in the arms or legs (in some cases)
- The swollen area becomes hard and attaches to the bone
- The swollen area becomes red and painful
- Eye infection
- Decreased mobility
- Difficulty eating leading to slow growth
- Pale complexion
Testing for Infantile Cortical Hyperostosis
If someone is suspected to have Infantile Cortical Hyperostosis (ICH), a rare condition that causes inflammation of the soft tissues and bones in infants, doctors would usually perform a series of lab tests. They might check the levels of things like the erythrocyte sedimentation rate (which measures how quickly red blood cells settle at the bottom of a test tube), C-reactive protein (a protein that rises in response to inflammation), alkaline phosphatase (an enzyme found in various body tissues), immunoglobulins (antibodies that plays a key role in the body’s immune response), white blood cells, and platelets. An increased level in any of these could suggest ICH. However, in some cases, all these lab findings might be within the normal range.
Genetic testing could be another method used to confirm ICH, as it can identify the presence of a specific gene mutation linked to the condition. However, as genetic testing is not always available, a diagnosis is usually made based on the symptoms the patient experiences and what doctors see in imaging scans.
X-ray images can show gradual thickening of the outer layer of the bone, new bone formation around the mid-section of the bone, and swelling of the soft tissues. Magnetic Resonance Imaging (MRI), another type of scan, usually shows thickening of the outer layer of the bone and changes in how the soft tissues appear depending on the type of sequence used. In T1 sequences, the soft tissues usually appear with low-signal intensity, while they appear with high-signal intensity in T2 sequences.
However, it’s important to note that the changes caused by ICH might take 15 to 20 days to show up on x-ray images, making it hard to diagnose the condition in its early stages. Sometimes, abnormal findings might show up on an MRI scan before they are evident on an x-ray image.
Treatment Options for Infantile Cortical Hyperostosis
Treatment for this condition involves careful monitoring and advice from your healthcare provider. Over-the-counter pain relievers such as acetaminophen, as well as anti-inflammatory medications like naproxen, ibuprofen, and indomethacin may help with symptoms. In more severe cases, corticosteroids, a type of medication which reduces inflammation, may be used. However, it’s important to note that these drugs have not been proven to prevent future instances of the condition.
What else can Infantile Cortical Hyperostosis be?
There are several other conditions that may have similar symptoms or appearances to a certain illness, which doctors need to factor in when making a diagnosis. These conditions include:
- Child abuse
- Cancer (Malignancy)
- Oversupply of Vitamin A (Hypervitaminosis A)
- Underactive parathyroid glands (Hypoparathyroidism)
- Inflammation of a salivary gland (Parotitis)
- Bone infection (Osteomyelitis)
- Effects from prostaglandin administration
- Scurvy (Vitamin C deficiency)
- Other conditions affecting collagen production (synthesis defects)
What to expect with Infantile Cortical Hyperostosis
The time it takes for symptoms to get better can range from a few weeks to several years. As the disease progresses, swelling might lessen in one spot and then come back in that same spot or somewhere else. Typically, ICH, or Infantile Hemangioma – a type of birthmark that appears at birth or in the first or second week of life, goes away on its own by the time a child turns 2 years old. Most of the time, this happens within 6 to 9 months. Both the symptoms you can see and feel, along with the results from medical tests, usually get back to normal during this time. However, it’s worth noting that there have been a few rare cases where the condition has come back during teenage years and adulthood.
Possible Complications When Diagnosed with Infantile Cortical Hyperostosis
Intracranial hemorrhage (ICH) typically rectifies itself without causing any major health problems. However, some cases may experience complications, these could include inflammation in the walls of the lungs (pleuritis), curvature of the spine in the chest region (thoracic scoliosis), and bulging eyes (exophthalmos). In rare instances, if there are deformities in the bone, it may necessitate surgical correction when the patient gets older.
Potential Complications:
- Inflammation in the walls of the lungs (pleuritis)
- Curvature of the spine in the chest region (thoracic scoliosis)
- Bulging eyes (exophthalmos)
- Bone deformities that may need surgical intervention in later years
