Jones syndrome is a hereditary fibromatosis that is associated with proliferation of connective tissue on the gums and progressive sensorineural hearing loss on both sides. The connective tissue growths are treated surgically. If you have hearing loss, a cochlear implant can restore hearing.
What is Jones Syndrome?
In addition to fibromatosis of the gums, patients with Jones syndrome suffer from bilateral sensorineural disturbances from adulthood.
According to phonejust.com, hereditary gingival fibromatosis is a group of congenital diseases characterized by the guiding system of gingival fibromatosis. Along with Ramon’s syndrome, Jones’ syndrome is one of the gingival fibromatoses. Jones syndrome is an extremely rare disease from this group, which, in addition to gum fibromatosis, causes progressive sensorineural disturbances in both ears.
The estimated prevalence is one case in 1,000,000 people. The disease is included in the disease group of bilateral hearing loss due to sensorineural disturbances. The first description of the hereditary disease dates back to 1977. G. Jones, who gave the disease its name, is considered to be the first to describe it. Hardly any cases have been documented since the first description. The number of cases recorded so far is well under 50. This limited research basis makes it difficult to investigate the causes.
The cause of Jones syndrome has not yet been finally clarified. Like all other diseases from the group of gingival fibromatoses, Jones syndrome does not appear to occur sporadically. Instead, familial clustering of the syndrome has been observed. The cases described so far come from only two different families. This means that Jones syndrome is presumably a genetic disease that is apparently based on an autosomal dominant inheritance.
The diseases from the group of gingival fibromatoses are caused by mutations. So far, the SOS1 gene at gene location 2p22.1 and mutations at locus 5q13-q22, 2p23.3-p22.3 and 11p15 are known to be affected genes. The causative mutation for Jones syndrome has not yet been identified. Likewise, little is known about factors that could play a role in the onset of the disease in addition to the family disposition.
Symptoms, Ailments & Signs
Like any syndrome, Jones syndrome is a complex of different clinical characteristics. Although the symptom complex corresponds to a congenital disease, the symptoms and clinical features of the syndrome do not become manifest until adulthood. The cardinal symptoms include overgrowth of the gums, which progresses progressively and often causes displacement of certain teeth when permanent teeth appear.
This fibromatosis corresponds to a benign proliferation of connective tissue that gradually infiltrates its surroundings. Myofibroblasts can form during tumor formation. Degeneration of the growths is extremely rare and has not been observed in connection with Jones syndrome. In addition to fibromatosis of the gums, patients with Jones syndrome suffer from bilateral sensorineural disturbances from adulthood.
This type of hearing loss corresponds to sensorineural hearing loss and affects the inner ear with its neuronal connections to the brain. Hearing loss is progressive in patients with Jones syndrome, causing complete hearing loss around middle age.
Diagnosis & course of disease
The diagnosis of Jones syndrome is usually not made immediately after birth, but only in adulthood and thus after the first symptoms have manifested. In most cases, the fibromatosis of the gums alone does not necessarily lead the doctor to suspect the syndrome.
Since the patients often do not notice the sensory sensory disorder in early adulthood, they often do not receive a diagnosis until middle age. At the latest after the manifestation of the progressive sensorineural disturbance, a diagnosis for the doctor is obvious. In addition to an osteoscopy, a biopsy of the gingival growths can be an instrument for diagnosis.
A molecular genetic analysis to confirm the diagnosis is not yet possible because the causative mutation has not yet been localized to a specific gene. Because of the characteristics of the two key symptoms, evidence of progressive sensorineural hearing loss and evidence of connective tissue proliferation are sufficient for diagnosis.
Jones syndrome causes various symptoms and complications for the patient. In most cases, those affected suffer from hearing loss and also from injuries to the gums. The hearing loss itself can develop into a complete hearing loss. As a result, the affected person is extremely restricted in his everyday life.
However, these complaints can be treated relatively well with the help of hearing aids. Jones syndrome also causes overgrowth on the gums, so that the teeth can shift as a result of this condition. As a result, the patients suffer from severe pain and consciously consume less food or liquid. Growths in the connective tissue can also occur.
The discomfort in the oral cavity can also be treated and removed with the help of surgical interventions, so that there are no complications. If the symptoms do not lead to complaints, an intervention does not necessarily have to take place. It is not uncommon for those affected to suffer from depression or other psychological problems as a result of the hearing loss. These can be treated by a psychologist. Life expectancy is usually not reduced by Jones syndrome.
When should you go to the doctor?
Changes in the gums should be examined by a doctor. If there is swelling in the mouth, a feeling of tightness or displacement of the teeth, a doctor should be consulted. If irregularities are noticed when wearing braces or dentures, it is advisable to see a doctor as soon as possible. If there are problems with the swallowing process, changes in breathing or a refusal to eat, a doctor must be consulted.
If the person concerned loses a significant amount of weight or drinks too little, there is a risk that the organism will be undersupplied. A doctor’s visit is necessary as soon as a feeling of internal dryness sets in. In severe cases, without medical care, there is a risk of dehydration and thus a life-threatening condition. There is also cause for concern if the individual suffers from hearing loss. If you have a unilateral or bilateral hearing loss, a doctor should examine and treat the symptoms. If your hearing continues to improve or you experience other problems, such as loss of balance, see a doctor immediately.
Otherwise there is a risk of deafness and thus the complete loss of hearing. The first indications are abnormalities and limitations of the usual language. If the patient feels ill, dizzy or unsteady when walking, they should initiate a check-up. Since the general risk of accidents is increased, timely and preventive help is required.
Treatment & Therapy
Causal therapies are currently not available for patients with Jones syndrome or for those affected by other hereditary gingival fibromatoses. Treatment is exclusively symptomatic. Gum fibromatosis may require corrective surgical intervention if the fibrous tissue growths are beyond the scope.
Any displacement of the teeth can be treated with orthodontic treatment. Missing bites encourage secondary problems such as headaches and jaw pain. Such secondary problems can be avoided by the combined treatment of connective tissue removal and orthodontics. Sensorineural hearing loss is the most serious symptom of Jones syndrome.
This type of hearing loss has so far hardly been treatable. In this case, surgery and medication fail. The progressive hearing loss can therefore not be stopped. However, there are ways to compensate. In the early stages, a fitted hearing aid can compensate for the hearing loss. After complete hearing loss, a hearing aid is no longer sufficient to compensate.
However, the deafness can be compensated for with a cochlear implant or an active middle ear implant, so that the patient can hear again. Gene therapy therapy approaches for patients with hereditary diseases are currently a subject of medical research. Such approaches are not yet in the clinical phase. However, approval for the clinical phase may be granted in the near future. Diseases such as Jones syndrome, which has so far been incurable, may in future be curable with gene therapy.
Outlook & Forecast
The prognosis of Jones syndrome must be evaluated individually. Since research into the cause of the disorder has not yet been fully completed, symptomatic treatment is carried out. The success of the measures depends on the severity of the disease. Due to the course of the disease, a genetic disposition is currently likely. Since the human genetics may not be changed due to legal requirements, a complete recovery with the previous possibilities is not given. However, medical advances allow the attending physician a wide range of therapy options, so that an improvement in well-being and alleviation of symptoms are possible.
The growths of the connective tissue are treated in a surgical procedure. This is associated with the usual side effects and complications. Nevertheless, the overall risks for those affected are manageable. If the unwanted connective tissue is removed without further disturbances, the patient is discharged from the treatment as recovered. Further follow-up visits over the course of life are necessary in order to be able to react immediately to possible changes.
If the symptoms lead to a severe impairment of hearing, further measures are necessary. If the hearing loss is severe, an implant is placed in the patient. This enables him to have improved hearing so that the quality of life is improved. Despite the implant, complete regeneration of hearing is currently not possible.
So far, there are no preventive measures for Jones syndrome because the causal relationships have not been finally clarified. When Jones syndrome has been diagnosed in a family, the only way family members can prevent their children from having the disease is to choose not to have children of their own. Because the causative mutation has not yet been identified, even genetic counseling regarding Jones syndrome is not available to parents involved in family planning.
Those affected with Jones syndrome only have very limited aftercare measures available, so that a doctor should first and foremost be consulted with this disease. Since this disease is a genetic condition, a genetic test and counseling should be carried out first if you want to have children in order to prevent the syndrome from recurring.
The sooner a doctor is contacted, the better the further course of this disease is usually. The treatment depends heavily on the severity of the symptoms, so that the further course also depends very much on the time of diagnosis. Those affected are dependent on taking various medications, whereby it is always important to ensure the correct dosage and regular intake.
If anything is unclear or you have any questions, you should always consult a doctor first. Likewise, those affected with hearing problems should wear a hearing aid so as not to worsen the symptoms. It is usually not possible to completely cure Jones syndrome, although the syndrome usually does not reduce the life expectancy of the person affected. Contact with other patients with the disease can also be useful, as this often leads to an exchange of information.
You can do that yourself
Which measures can be taken for Jones syndrome itself depends on the individual symptoms, the constitution of the patient and the medical therapy.
Basically, any headache and jaw pain must be treated, for example with prescribed medicines or with home remedies and preparations from naturopathy. A proven remedy is, for example, Belladonna, which can be taken in consultation with the doctor and should reduce pain quickly. If the hearing loss occurs, the person concerned must wear a hearing aid. If there is a complete hearing loss, psychological advice is required, since hearing loss usually represents an enormous burden and reduces the quality of life.
Any jaw misalignments require surgical treatment. The patient should take it easy after surgery and adjust their diet. In addition, a doctor must be consulted regularly. In later life, sufferers of Jones syndrome should seek therapeutic advice. Contact with other sufferers also helps to process the disease and develop strategies for dealing with the individual symptoms. The only preventive measure is to refrain from having children.