Diseases

Jaffé-Campanacci Syndrome – Causes, Symptoms & Treatment

Jaffe-Campanacci-Syndrom

Jaffé-Campanacci syndrome is a disease characterized by gradual damage to the shinbone (medical term tibia). The disease occurs comparatively rarely and manifests itself in the majority of cases in patients who are younger than ten years old. The damage usually develops slowly and is osteofibrous in nature. The pathological change of the bone arises mainly cortical.

What is Jaffé-Campanacci Syndrome?

Jaffé-Campanacci syndrome is also referred to by some doctors as Campanacci type osteofibrous dysplasia or congenital fibrous defect of the tibia . The name of the disease is based on the two first describers of the disease, Jaffé and Campanacci.

The first scientific descriptions of the Jaffé-Campanacci syndrome were in the years 1942 and 1970. From a histological point of view, the Jaffé-Campanacci syndrome has certain parallels to the so-called ossifying bone fibroma. In the course of the disease, the cortical bone is destroyed and the growth age increases. A progressive deformation develops in connection with a so-called antecurvation.

causes

At the present time, no reliable statements can be made regarding the exact causes of the Jaffé-Campanacci syndrome. This is primarily due to the low prevalence of the disease and the associated small number of medical research studies investigating the causes of Jaffé-Campanacci syndrome.

For example, genetic reasons are currently being discussed as possible factors for the development of Jaffé-Campanacci syndrome. Basically, it is a malignant or malignant disease. The disease is currently considered to be a fibrovascular disorder.

Symptoms, Ailments & Signs

As part of the Jaffé-Campanacci syndrome, numerous different symptoms and complaints occur in the sick people. In many cases, the signs of the disease point to the disease relatively clearly. Nevertheless, a meticulous differential diagnosis is essential, since the typical symptoms of Jaffé-Campanacci syndrome are similar to those of certain other diseases.

Jaffé-Campanacci syndrome usually first appears within the first five years of the affected person’s life. The disease manifests itself primarily in the fact that the tibia arches forward. Basically, empirical values ​​indicate that male patients develop Jaffé-Campanacci syndrome more often than female patients.

The deformation of the tibia occurs without pain. The curvature usually occurs in the area of ​​the middle shaft on the so-called tibia cortical bone. After the patients are fully grown, the deformity of the tibia also usually ends.

Diagnosis & disease progression

The deformation of the tibia as part of the Jaffé-Campanacci syndrome can hardly be overlooked after a while. First of all, it is advisable to inform the pediatrician about the symptoms, who will refer the sick person to a suitable specialist. First, a thorough analysis of the medical history, including family history, is performed.

The patient and his parents provide information about the symptoms and their onset. Possibly similar cases in the family play an important role in the diagnosis. After the patient consultation, various procedures of medical examination technology are in order.

X-ray methods are particularly important here . The corresponding imaging indicates the Jaffé-Campanacci syndrome based on the deformations in the areas typical of the disease. This shows, for example, a ventral thickening of the so-called compacta and a change in structure. In about one fifth of the cases of the disease, there are similar deformations in the area of ​​the fibula (medical term fibula).

An exact differential diagnosis by the attending physician is of great importance in the diagnosis of the Jaffé-Campanacci syndrome. The Jaffé-Campanacci syndrome is primarily distinguished from fibrous dysplasia and adamantinoma . The diagnosis of Jaffé-Campanacci syndrome can only be made with certainty when other possible diseases can be ruled out with a high degree of probability.

complications

Jaffé-Campanacci syndrome usually causes damage and discomfort to the tibia. In most cases, the symptoms do not appear immediately, but develop over the course of life. The shinbone is severely swollen and pain can still occur.

It is not uncommon for movement restrictions to occur, which can also be associated with psychological complaints or depression. In the further course, the tibia can also be deformed without treatment, which can lead to further discomfort and pain. The development of the child may be hampered by the Jaffé-Campanacci syndrome, so that there can also be limitations and consequential damage in adulthood.

The likelihood of fractures in the patient’s bones also increases. The treatment itself is carried out with the help of various therapies and can limit the symptoms of Jaffé-Campanacci syndrome relatively well. There are no further complications.

Despite treatment, the patient may be restricted in everyday life. Certain sports may also not be possible. However, life expectancy is not changed or reduced by Jaffé-Campanacci syndrome.

When should you go to the doctor?

If there are abnormalities in the bone structure of children in the first years of life, a doctor should be consulted. If a deformation of the tibia slowly develops over several months during the growth process, a doctor’s visit is required for a closer examination and determination of the cause. If mobility is restricted or if the child complains of pain, a doctor should be consulted. If normal physical activities can no longer be carried out or if the changes in the shinbone result in mobility restrictions, a doctor should be consulted.

Since life-long impairments can develop without medical evaluation, a doctor’s visit is advisable as soon as the first bulges of the tibia are noticed during the development process. In severe cases, various consequential damage can occur in adulthood, which should be prevented in good time if possible. If, in addition to the physical characteristics, emotional and psychological problems arise, a doctor’s visit is also advisable. Behavioral problems, personality changes, or mood swings indicate irregularities that should be evaluated.

The vulnerability to the development of a mental disorder is increased due to the visual flaw, so therapeutic help is recommended in the event of a depressive or aggressive appearance. If there is a decrease in cognitive performance, withdrawal behavior or strong feelings of shame, medical help is required.

Treatment & Therapy

Medical science is not yet able to cure or effectively treat Jaffé-Campanacci syndrome. In principle, there is the possibility of correcting the deformations in the area of ​​the tibia in the context of surgical interventions. However, the risk of recurrences must be weighed against a possibly successful therapy.

In principle, the Jaffé-Campanacci syndrome is characterized by a comparatively high probability of recurrence. If affected patients suffer fractures in the diseased area of ​​the bone , conservative treatment is usually used. This shows good results in the majority of cases, as well as in healthy people.

In principle, it is possible that a so-called pseudarthrosis develops as part of the Jaffé-Campanacci syndrome. However, this phenomenon occurs relatively rarely in connection with the Jaffé-Campanacci syndrome. For example, physiotherapy exercises or special shoe inserts that relieve the deformed skeleton can be used for symptomatic therapy. This strengthens the bones and muscles and significantly improves the patient’s quality of life.

Outlook & Forecast

The prospect of achieving a cure or a lasting surgical success by straightening the tibia in Jaffé-Campanacci syndrome is rather slim. The disease usually comes to a standstill at the end of the growth period. However, she may experience a recurrence. Therefore, in most cases only the symptoms can be alleviated. In view of the absolute rarity of this syndrome, no new therapeutic approaches are to be expected in the foreseeable future.

It is possible that knowledge about the cause of the disease will help the helpless physicians. So far, medicine has not been able to do much against the pathological bone changes in the tibia. Crucial to the prognosis of this fibro-vascular disorder is the view that it is a malignant, possibly genetic disease. Therefore, the prognosis for the Jaffé-Campanacci syndrome cannot be positive at the moment.

After all, early diagnosis of Jaffé-Campanacci syndrome can ensure that patients receive medical care. You will receive physical therapy to relieve the pain. Psychotherapeutic care is often also necessary because the deformities can lead to depression and bullying experiences in those affected.

The earlier the differential diagnosis is completed and treatment can begin, the better it is for the patient. Thanks to the Jaffé-Campanacci syndrome, this person does not have a shorter life expectancy, but has to reckon with consequential damage if the disease is not correctly diagnosed.

prevention

So far, the causes of the development of the Jaffé-Campanacci syndrome have not been researched intensively, so that important insights into contributory factors are missing. For this reason, no effective prevention of the Jaffé-Campanacci syndrome is practicable at the present time. It is of particular importance for the affected patients that the disease is diagnosed by a doctor as early as possible. In this way, adequate measures for adaptation are possible at an early stage.

aftercare

As a rule, aftercare measures are very limited in Jaffé-Campanacci syndrome. Therefore, those affected should consult a doctor as soon as the first symptoms and symptoms of the disease appear in order to prevent the symptoms from getting worse. As a rule, self-healing cannot occur, although complete healing is usually not possible.

Most of those affected are dependent on a surgical procedure, which can alleviate the symptoms. Afterwards, those affected should definitely rest and protect their bodies. Exertion or physical and stressful activities should be avoided in order not to unnecessarily burden the body. Likewise, most of those affected are dependent on measures of physiotherapy and physiotherapy.

Many of the exercises from these therapies can be repeated at home, potentially further accelerating healing. With Jaffé-Campanacci syndrome, those affected also depend on help and support in everyday life from their own family and friends. Psychological complaints or even depression can also be prevented. Life expectancy is usually not reduced by the syndrome.

You can do that yourself

People with the Jaffé-Campanacci syndrome usually develop the first symptoms in childhood, but these are of a relatively non-specific nature. The first self-help measure is therefore to consult a doctor despite the diffuse symptoms and to diagnose the disease by means of medical examinations by various doctors. The parents of the affected child initiate the therapy and accompany the patient to all examination and treatment appointments.

Those affected receive special painkillers to treat the leg pain associated with the disease, which must always be taken as prescribed by the doctor treating them. Since the sick children cannot be expected to bear the sole responsibility for dealing with their illness properly, the guardians play an indispensable role here.

The deformation of the tibia that is typical of the disease usually means that patients have to accept various limitations in their usual ability to move. This means that the practice of certain sports is no longer an option for the patients. Together with a physiotherapist , the patient discusses his motor skills and finds suitable sporting activities that have a beneficial effect on the quality of life and mobility of the person concerned. Since there is an increased risk of fractures, patients try to avoid falls or other accidents by paying more attention in everyday life.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.