Cherubism is a congenital disorder of the jaw. Affected individuals suffer from multicystic benign bone tumors in the jaw area that manifest as swellings. The tumors can be removed by surgery or scraping.
What is cherubism?
Congenital bone disorders come in many forms. Many are associated with distension of the affected bones. One such condition is cherubism, also known as cherubinism, which affects the jaw. The disease was first described in 1933, and the first person to describe it was W. A. Jones of the United States. Due to the anomalies of the jaw, the face of the patients also appears deformed. Since they have upwardly directed eyes, the faces of those affected are reminiscent of angel faces. In this context, the term “cherubic face” is also used, which ultimately gave the disease its name. Cherubism belongs to the benign fibro-osseous diseases and is reported with a prevalence of less than one case in 10,000 people. Like all fibro-osseous diseases, cherubinism is associated with the formation of multicystic bone tumors. The congenital disorder is inherited in an autosomal dominant manner according to case reports to date, with incomplete penetrance and variable expressivity suspected.
Causes
The cause of cherubism lies in genetics. It is presumably a mutation that is passed in the autosomal dominant mode of inheritance. According to current hypotheses, the mutation most likely affects the so-called SH3BP2 gene in chromosomal region 4p16.3, which codes for an adapter protein. This protein regulates intracellular signaling processes by forming complexes with various other proteins. When the coding gene is mutated, the protein can be altered in such a way that it can no longer perform its original functions, or can do so only inadequately. Cherubism and its underlying mutation are sometimes only the symptom of a superordinate disease. For example, patients of Noonan syndrome also suffer from the disease. The same is true for patients of Noonan ‘like’ syndrome, Ramon syndrome with gingival fibromatosis, and neurofibromatosis type I.
Symptoms, complaints, and signs
Although it is a congenital disorder, patients with cherubism do not show symptoms immediately after birth. Most affected individuals do not develop symptoms until infancy, initially manifesting as symmetrical swelling of the mandible and later progressing to concurrent swelling of the maxilla. In a sequel of the swellings, the patients possess apparently skyward eyes. The swellings result from multicystic benign bone tumors, and the dentition of the affected individuals is subject to disturbances in the respective affected areas. Thus, some of the patients’ teeth may not be attached. Other teeth may not erupt, or may erupt with delay, or may be affected by displacement. Sometimes the roots of the teeth are resorbed, and malocclusion is also a common occurrence. As a result of the overgrowth, constriction of nasal breathing and disruption of tongue function occur in addition to the disruption of tooth positions. If left untreated, the anomalies regress with puberty. In most cases, atrophy of the alveolar processes takes place during this time. Only in rare cases does regression of the cystic changes not occur even with puberty.
Diagnosis and course
The diagnosis of cherubism is usually made by the physician on the basis of changes in tooth development. To assess the changes, he arranges for imaging. On radiographs, he or she detects multicystic whitening or even distention of the jaw sections. For a more exact representation, he arranges sectional imaging such as computer tomography. Imaging alone can usually differentiate the disease from similar diseases such as fibrous dysplasia. Typically, a biopsy is performed for a more detailed assessment of the tissue changes so that the diagnosis can be confirmed histologically. On histology, the tissue samples show irregularly distributed multinucleated giant cells. The vascular spaces lie within a fibrous connective tissue stroma. Osteoclast-specific markers are released by the giant cells.After the diagnosis is confirmed, the patient’s cherubism is further assessed for its association with other inherited diseases.
Complications
In cherubism, the patient suffers from deformation of the jaw. This deformity also affects the surrounding bones and in the process can deform and disfigure the entire face. Children in particular may experience teasing and bullying due to cherubism. This often leads to psychological problems, depression, and lowered self-esteem in the individual. In most cases, cherubism is congenital, but develops over the course of the patient’s life. At first, swelling appears on the lower jaw. The patient also has problems with the teeth. These are incorrectly arranged, lie on top of each other or can even break off. This results in relatively severe pain. However, with today’s dentistry, this symptom can be treated relatively well. Due to the displacement of the teeth, a disturbance of the breathing and the tongue is also possible. In some cases, affected persons are not able to speak properly. Often, the cherubism recedes in the patient, so that there is no further
complications do not occur in adulthood. The interventions on the teeth are surgical in nature and lead to a positive course of the disease in most patients. No further complications occur in this case.
When should you go to the doctor?
In the case of cherubism, a visit to a doctor is definitely necessary. Although the tumors are benign, they should still be removed to prevent further complications. Self-healing does not occur. The affected person should then consult a doctor if there is significant swelling in the area of the jaw. This swelling is visible to the eye, so that other people can also point out the disease to the patient. As a rule, there is no pain. However, misalignment of the teeth may also occur due to cherubism, so this symptom may also indicate the disease. The affected person should also consult a doctor if there is any discomfort when swallowing or closing the mouth. An examination by a doctor is also advisable if some teeth are missing. As a rule, the complaints disappear after puberty. However, in some cases, surgical interventions are still necessary, which can be performed by a surgeon.
Treatment and therapy
Although cherubism theoretically regresses after puberty, surgical intervention is recommended in some cases. Usually, such intervention is recommended after the end of puberty and, if successful, mainly improves the mobility of the jaw and the psychological situation of the affected person. If the lesions grow particularly rapidly, curettage, i.e., scraping of the affected area, is often performed. Alternatively, surgical contouring can be performed. On the one hand, these interventions achieve an immediate result and, on the other hand, prevent the active growth of the remaining lesions. Direct intervention may even stimulate the regeneration of bone tissue. If the lesions are extensive and there is a risk of fracture for this reason, a segmental resection is usually performed. This involves the portions of the mandible and is combined with subsequent reconstruction of the affected areas of the jaw. In the meantime, medicinal therapeutics are also being tested. Calcitonin and interferon-alpha are a current focus of research as drug treatments.
Outlook and prognosis
Cherubism has a good prognosis. Despite the rapidly progressive course of the disease after onset and the presence of symptoms, a good final outcome can be achieved with comprehensive medical care. Thanks to the surgical possibilities, nowadays the physical features and deformities are corrected to such an extent that there are hardly any impairments in the further course of life. In only very rare cases permanent mutations remain. Nevertheless, these do not lead to a shortening of life expectancy or a deterioration of physical health. The benign tumors can be removed in a surgical procedure, as they are located in an easily accessible area in the body. The swellings on the jaws subsequently regress. The aftercare consists of jaw as well as teeth correction.Overall, the healing process for most patients takes several years, as the corrections to the jaw and teeth are lengthy. Afterwards, the patient is considered permanently cured. Nevertheless, cherubism can lead to secondary symptoms due to optical changes. For example, speech disorders or breathing difficulties are possible complications that the patient has to face. If a mental disorder develops, the general state of health deteriorates again. However, the disorders cannot cause an effect on the recovery of cherubism or a relapse.
Prevention
Cherubism is a hereditary disorder with a genetic basis. Therefore, its occurrence can be prevented only by genetic counseling at the family planning stage. At the risk of passing it on, a couple can thus decide against having their own child, for example.
Follow-up
Cherubism aftercare includes, on the one hand, regular medical progress checks. On the other hand, the patient must perform speech exercises to improve the limited ability to speak. As part of the follow-up examinations, which can take place monthly at the beginning and then, depending on the course of the disease, every three months, every six months or every year, the doctor examines the jaw region. In addition to an X-ray examination of the affected region, a blood sample and, if necessary, a tissue sample are also taken. The laboratory can determine if cancer cells are present in the body. Based on the results, the doctor will then discuss the next steps with the patient. The patient should contact a therapist, if necessary, so that speech therapy can be optimized. In addition, in some patients the condition leads to psychological complaints, which ess must be worked through. The extent to which this is necessary always depends on the severity of the illness and must be discussed in detail with the responsible physician. It is also advisable to participate in medical aftercare programs. The health insurance companies recommend a follow-up of five years. For the most part, a far-advanced cherubism is associated with continuous treatment for the patient. Follow-up care is coordinated by the primary care physician or appropriate specialist.
What you can do yourself
Patients with cherubism are only partially able to influence the condition of their disease through self-help measures. The resulting swelling of the upper and lower jaws disfigures the face and often leads to problems such as bullying and exclusion, especially in children. Although the mental development of patients is usually not affected by the disease, in some cases attendance at a special school is recommended. There, the children with the disease experience much more support and social integration, so that they develop a healthy self-esteem. Cherubism is often associated with defective development of the teeth, with certain teeth missing or poorly formed. In this case, orthodontic treatment is usually necessary, which depends largely on the patient’s commitment. This is because it is essential for good therapeutic results that the person concerned wears the braces made in a disciplined manner. Sometimes surgeries and tooth extraction are also necessary, with the patient subsequently taking care to maintain an adequate diet. If the patient suffers too much from bullying or inferiority complexes, a visit to a psychotherapist is appropriate to deal with the mental stress. In some circumstances, the parents of the person affected by cherubism may also benefit from such treatment.
