Jones syndrome is a heriditary fibromatosis associated with connective tissue growths on the gums and bilateral progressive sensorineural hearing loss. The connective tissue growths are treated surgically. If hearing loss is present, a cochlear implant can restore hearing.
What is Jones syndrome?
Hereditary gingival fibromatosis refers to a group of congenital disorders characterized by the guidance system of gingival fibromatosis. In addition to Ramon syndrome, Jones syndrome is one of the gingival fibromatoses. Jones syndrome is an extremely rare disorder from this group that causes progressive sensorineural hearing loss in both ears in addition to gingival fibromatosis. The prevalence is estimated to be one case per 1,000,000 people. The disease is included in the disease group of bilateral hearing loss due to sensorineural hearing loss. 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 person to describe it. Since the first description, hardly any cases have been documented. The number of cases recorded to date is well under 50. This limited research base complicates causal research.
Causes
The cause of Jones syndrome has not been conclusively determined to date. Like all other disorders in the gingival fibromatosis group, Jones syndrome does not appear to occur sporadically. Instead, a familial clustering of the syndrome has been observed. Thus, the cases described so far originate from only two different families. Thus, Jones syndrome is presumably a genetic hereditary disease that appears to be based on an autosomal dominant mode of inheritance. The diseases from the group of gingival fibromatoses are caused by mutations. So far, the affected genes are known to be the SOS1 gene at gene locus 2p22.1 and mutations at locus 5q13-q22, 2p23.3-p22.3 and 11p15. The causative mutation for Jones syndrome has not yet been identified. Nor are factors known that might play a role in the onset of the disease in addition to familial predisposition.
Symptoms, complaints, and signs
Like any syndrome, Jones syndrome is a complex of different clinical characteristics. Although the symptom complex corresponds to a congenital disorder, the symptoms and clinical features of the syndrome do not reach manifestation until adulthood. The leading symptoms include an overgrowth of the gums that progressively progresses and often causes displacement of certain teeth when permanent teeth appear. This fibromatosis corresponds to a benign growth of connective tissue that gradually infiltrates its surroundings. Myofibroblasts may develop during the formation of the growth. Degeneration of the growths is extremely rare and has not been observed in association with Jones syndrome. In addition to fibromatosis of the gums, Jones syndrome patients suffer from bilateral sensorineural hearing loss beginning in adulthood. This type of hearing loss corresponds to sensorineural hearing loss and affects the inner ear with its neural connections to the brain. Hearing loss progresses progressively in Jones syndrome patients, causing complete hearing loss around middle age.
Diagnosis and disease progression
The diagnosis of Jones syndrome is usually not made immediately after birth, but rather in adulthood and thus after the manifestation of the first symptoms. In most cases, fibromatosis of the gums alone does not necessarily move the physician to suspect the syndrome. Since patients often do not notice the sensorineural disorder in early adulthood, they often do not receive a diagnosis until middle age. At the latest after the manifestation of progressive sensorineural hearing loss, a diagnosis is obvious to the physician. In addition to an ostoscopy, a biopsy of the gingival growths can be instrumental in establishing the diagnosis. Molecular genetic analysis to confirm the diagnosis is not yet possible, since the causative mutation has not yet been localized to a specific gene. Because of the characteristics of the two leading symptoms, evidence of progressive sensorineural hearing loss and evidence of connective tissue growths are sufficient to establish the diagnosis.
Complications
Jones syndrome causes various complaints and complications in 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 limited in his or her everyday life. However, these complaints can be treated relatively well with the help of hearing aids. Furthermore, Jones syndrome leads to an overgrowth of the gums, so that the teeth can shift as a result of this complaint. As a result, patients suffer from severe pain and consciously consume less food or fluid. Likewise, growths can occur on the connective tissue. The discomfort in the oral cavity can likewise be treated and removed well with the help of surgical procedures, so that no complications occur in the process. If the symptoms do not lead to discomfort, surgery is not necessarily required. Due to the hearing loss, those affected often suffer from depression or other psychological complaints. These can be treated by a psychologist. Life expectancy is usually not reduced by Jones syndrome.
When should you see a doctor?
Changes in the gums should be examined by a doctor. If there is swelling in the mouth, a tight feeling, or shifting of the teeth, a doctor should be consulted. If irregularities are noticed while wearing braces or a denture, a visit to the doctor is advised as soon as possible. If there is any discomfort in the swallowing process, changes in breathing or a refusal to eat, a doctor should be consulted. If the affected person loses a significant amount of weight or drinks too little, there is a risk that the organism is not being properly supplied. A visit to the doctor is necessary as soon as a feeling of internal dryness sets in. In severe cases, dehydration and thus a life-threatening condition is imminent without medical care. If the individual suffers from a reduction in hearing, there is also cause for concern. If the hearing loss is unilateral or bilateral, a physician should evaluate and treat the condition. If hearing continues to increase or if there are further disturbances, such as loss of balance, a doctor must be consulted immediately. Otherwise, there is a risk of deafness and thus complete loss of hearing. First indications are abnormalities as well as restrictions of the usual speech. In case of a feeling of sickness, dizziness or unsteadiness of gait, the affected person should initiate a check-up. Since the general risk of accidents is increased, timely and preventive help is needed.
Treatment and therapy
Causal therapies are not currently available for patients with Jones syndrome, nor for sufferers of other hereditary gingival fibromatoses. Treatment is exclusively symptomatic. Fibromatosis of the gingiva may require surgical corrective intervention if the connective tissue growths are beyond the scope. Any misalignment of the teeth can be treated by orthodontic treatment. Malocclusions promote secondary complaints such as headaches and jaw pain. Such secondary complaints can be avoided by the combined treatment of connective tissue removal and orthodontics. Sensorineural hearing loss is the most serious symptom of Jones syndrome. However, this type of hearing loss is hardly treatable so far. Surgery and medication fail in this case. 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, deafness can be compensated for using a cochlear implant or an active middle ear implant, allowing patients to hear again. Gene therapy approaches for patients with hereditary diseases are currently a subject of research in medicine. 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 the previously incurable Jones syndrome may be curable in the future through gene therapy.
Prospects and prognosis
The prognosis of Jones syndrome must be evaluated on an individual basis. Because research into the cause of the disorder has not yet been fully completed, symptomatic treatment is provided.The success of the measures depends on the severity of the disease. Based on the course of the disease, a genetic disposition is currently likely. Since the genetics of humans may not be changed due to legal regulations, a complete recovery with the present possibilities is not given. However, medical progress allows the treating physician comprehensive therapy possibilities, so that an improvement of the well-being and an alleviation of the complaints 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 are manageable for the affected person. If the unwanted connective tissue is removed without further disturbances, the patient is discharged from the treatment as recovered. Further control visits during the course of life are necessary in order to be able to react immediately in case of possible changes. If the patient’s hearing is severely impaired as a result of the symptoms, further measures are necessary. In the case of severe hearing loss, the patient is fitted with an implant. This enables him to improve his hearing ability so that his quality of life is improved. Nevertheless, a complete regeneration of hearing is currently not possible despite the implant.
Prevention
To date, no preventive measures exist for Jones syndrome because the causal relationships have not been definitively clarified. If Jones syndrome has been diagnosed in a family, the most that family members can do to prevent their children’s disease is to decide not to have children of their own. Because the causative mutation has not yet been identified, genetic counseling regarding Jones syndrome is not even available to parents in family planning.
Follow-up
There are very limited aftercare measures available to the affected person in Jones syndrome, so a physician should be consulted in the first instance for this disease. Because this disease is genetic, if a person wishes to have children, genetic testing and counseling should be done first to prevent the recurrence of the syndrome. The sooner a doctor is contacted, the better the further course of the disease will be. The treatment depends strongly on the severity of the symptoms, so that the further course is also very dependent on the time of diagnosis. Those affected are dependent on taking various medications, whereby attention must always be paid to the correct dosage and also to regular intake. If there are any uncertainties or questions, a doctor should always be consulted first. Likewise, affected persons should wear a hearing aid in case of hearing difficulties in order not to worsen the symptoms additionally. A complete cure for Jones syndrome is usually not possible, although the syndrome does not usually reduce the life expectancy of the affected person. Contact with other patients of the disease can also be useful, as this often results in an exchange of information.
What you can do yourself
The measures that can be taken for Jones syndrome itself depend on the individual complaints, the constitution of the patient and the medical therapy. Basically, any headaches and jaw pain must be treated, for example, by prescribed medicines or by home remedies and preparations from natural medicine. A proven remedy, for example, is belladonna, which can be taken in consultation with the doctor and should quickly reduce pain. If hearing loss occurs, the affected person must wear a hearing aid. If there is a complete loss of hearing, psychological advice is needed, since hearing loss is usually an enormous burden and a restriction of the quality of life. Any jaw misalignments require surgical treatment. After surgery, the patient should initially take it easy and adjust his diet. In addition, a doctor must be consulted regularly. Later in life, sufferers of Jones syndrome should seek therapeutic counseling. Contact with other sufferers also helps to come to terms with the condition and to develop strategies for dealing with the individual symptoms. The only preventive measure is to refrain from having children.
