Jaffé-Campanacci syndrome represents a disease characterized by gradual damage in the area of the tibia (medical term tibia). The disease is comparatively rare and manifests itself in the majority of cases in patients younger than ten years of age. The damage usually develops slowly and is osteofibrous in nature. The pathologic change of the bone results mainly cortically.
What is Jaffé-Campanacci syndrome?
Jaffé-Campanacci syndrome is also called osteofibrous dysplasia Campanacci type or congenital fibrous defect of the tibia by some physicians. The name of the disease is based on the two first describers of the condition, Jaffé and Campanacci. The first scientific descriptions of Jaffé-Campanacci syndrome were made in 1942 and 1970. us histologically, 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 is increased. A progressive deformity develops in association with a so-called antecurvation.
Causes
At the present time, no definite conclusions can be made regarding the exact causes of Jaffé-Campanacci syndrome. This is primarily due to the low prevalence of the disease and the associated paucity of medical research studies to determine the causes of Jaffé-Campanacci syndrome. Currently, for example, genetic reasons are under discussion as possible factors for the development of Jaffé-Campanacci syndrome. Basically, it is a malignant or malignant disease. Currently, the disease is considered a fibrovascular disorder.
Symptoms, complaints, and signs
In the context of Jaffé-Campanacci syndrome, many different disease symptoms and complaints are experienced by people with the disease. In many cases, the signs of the disease are relatively unambiguous. Nevertheless, a meticulous differential diagnosis is essential because the typical symptoms of Jaffé-Campanacci syndrome resemble those of certain other disorders. Jaffé-Campanacci syndrome usually first appears within the first five years of life of affected individuals. The primary manifestation of the disease is the forward curvature of the tibia. In principle, empirical data indicate that male patients suffer from Jaffé-Campanacci syndrome more often than females. The deformity of the false bone occurs without pain. Most often, the bulge results in the midshaft area at what is called the tibial cortex. After patients are fully grown, the deformity of the tibia usually ends as well.
Diagnosis and disease progression
The deformity of the tibia in Jaffé-Campanacci syndrome is hard to miss after some time. First, it is appropriate to inform the pediatrician about the symptomatology, who will refer the affected person to an appropriate specialist. First, a thorough analysis of the medical history, including family history, is performed. The patient and his parents provide information about the symptoms as well as their onset. Possibly similar cases in the relatives play an important role in the diagnosis. After the patient interview, various procedures of the medical examination technique are performed. X-ray procedures are particularly important here. The corresponding imaging indicates Jaffé-Campanacci syndrome on the basis of the deformities in the areas typical of the disease. For example, a ventral thickening of the so-called compacta as well as a change in structure can be seen. In about one fifth of the cases, similar deformations are found in the area of the fibula. An exact differential diagnosis by the treating physician is of great relevance in the diagnosis of Jaffé-Campanacci syndrome. In this context, Jaffé-Campanacci syndrome is primarily distinguished from fibrous dysplasia and adamantinoma. The diagnosis of Jaffé-Campanacci syndrome cannot be made with certainty until other diseases in question 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 a lifetime. The shinbone is severely swollen and pain may also continue to occur. It is not uncommon for movement restrictions to occur, which can also be associated with psychological complaints or with depression. In the further course, the tibia can also become deformed without treatment, which can lead to further discomfort and pain. Jaffé-Campanacci syndrome can, if necessary, hinder the child’s development, so that limitations and consequential damage can also occur in adulthood. Likewise, the likelihood of bone fractures in the patient 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. If necessary, the patient may experience restrictions in everyday life despite treatment. It may also not be possible to perform certain sports. However, life expectancy is not altered or reduced by Jaffé-Campanacci syndrome.
When should you see a doctor?
If abnormalities of the bone structure occur in children during the first years of life, a doctor should be consulted. If a deformity of the tibia develops slowly over several months within the growth process, a visit to the doctor is necessary for closer examination and to determine the cause. If the child experiences restrictions in movement or complains of pain, a doctor should be consulted. If the child is no longer able to perform normal physical activities or if mobility is restricted by the changes in the tibia, a doctor should be consulted. Since lifelong impairments can develop without medical clarification, a visit to the doctor is advisable as soon as the first bulges of the tibia are noticed within the development process. In severe cases, various consequential damages can occur in adulthood, which should be prevented in time if possible. If, in addition to the physical characteristics, emotional and psychological problems arise, a visit to the doctor is also advisable. Behavioral abnormalities, changes in personality or mood swings indicate irregularities that should be examined. The vulnerability for the development of a mental disorder is increased due to the visual blemish, therefore therapeutic help is recommended in case of a depressive or aggressive appearance. If a decrease in cognitive performance sets in, withdrawal behavior or strong feelings of shame occur, medical help becomes necessary.
Treatment and therapy
At present, it is not yet possible for medical science to cure or effectively treat Jaffé-Campanacci syndrome. Although, in principle, it is possible to correct the deformities in the area of the tibia during surgical procedures. However, the risk of recurrence must be weighed against a possibly successful therapy. In principle, Jaffé-Campanacci syndrome is characterized by a comparatively high probability of recurrence. If the affected patients suffer fractures in the diseased area of the bone, conservative treatment is usually used. This is successful in the majority of cases, just as it is in healthy individuals. In principle, it is possible that a so-called pseudarthrosis develops in the context of the Jaffé-Campanacci syndrome. However, this phenomenon occurs relatively rarely in connection with Jaffé-Campanacci syndrome. Symptomatic therapy may include physiotherapy exercises or special shoe inserts that relieve the deformed skeleton. This strengthens the bones and muscles and significantly improves the quality of life of the affected patient.
Outlook and prognosis
The prospect of achieving a cure or sustained surgical success in Jaffé-Campanacci syndrome by straightening the tibia is rather low. It is true that the disease usually comes to a halt at the end of the growth period. However, it may experience a recurrence. Therefore, usually 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 insights into the cause of the disease will bring the perplexed physicians further.So far, not too much can be directed by medicine against the pathological bone change of the tibia. The decisive factor for the prognosis of this fibro-vascular disorder is the view that it is a malignant, possibly genetic disease. From this perspective, the prognosis for Jaffé-Campanacci syndrome cannot be positive at this time. At least, early diagnosis of Jaffé-Campanacci syndrome can ensure that patients receive medical care. They receive physical therapy to relieve pain. Often, psychotherapeutic care also becomes necessary because the deformities can lead to depression and bullying experiences in those affected. The sooner the differential diagnosis is completed and treatment can begin, the better it is for the patient. The latter does not have a shorter life expectancy thanks to Jaffé-Campanacci syndrome, but must expect consequential damage if the disease is not correctly diagnosed.
Prevention
To date, the causes for the development of Jaffé-Campanacci syndrome have not been intensively researched, so important knowledge regarding promoting factors is lacking. For this reason, effective prevention of Jaffé-Campanacci syndrome is not yet practical at the present time. For the affected patients it is of particular importance that the disease is diagnosed by a physician as early as possible. In this way, adequate measures for adaptation are possible at an early stage.
Follow-up
In general, measures of follow-up care are severely limited in Jaffé-Campanacci syndrome. Therefore, affected individuals should seek medical attention at the first symptoms and discomfort of the disease to prevent further worsening of symptoms. As a rule, self-healing cannot occur, and a complete cure is usually not possible either. Most of those affected are dependent on surgical intervention, which can alleviate the symptoms. Afterwards, those affected should in any case rest and take care of their body. They should refrain from exertion or from physical and stressful activities in order not to put unnecessary strain on the body. Likewise, most sufferers rely on measures of physiotherapy and physical therapy. Many of the exercises from these therapies can also be repeated in the patient’s own home, which may further accelerate the healing process. With Jaffé-Campanacci syndrome, sufferers also rely on their own family and friends for help and support in everyday life. This may also prevent psychological distress or even depression. Life expectancy is not usually reduced by the syndrome.
What you can do yourself
Individuals with Jaffé-Campanacci syndrome usually develop their first symptoms in childhood, although they are relatively nonspecific in nature. Therefore, the first self-help measure is to visit a physician despite the diffuse symptoms and to diagnose the disease by means of medical examinations with various medical professionals. The parents of the child affected initiate the therapy and accompany the patient to all examination and treatment appointments. For the leg pain associated with the disease, the affected person receives special painkillers, which must always be taken as prescribed by the treating physician. Since the sick children cannot be expected to take sole responsibility for the proper management of their disease, the guardians play an indispensable role here. The deformation of the tibia, which is typical of the disease, usually means that patients have to accept various restrictions on their usual ability to move. Thus, the practice of certain sports is no longer an option for patients. Together with a physiotherapist, the patient discusses his or her motor possibilities and finds suitable sports activities that have a beneficial effect on the patient’s quality of life and ability to move. Since there is an increased risk of bone fractures, patients try to avoid falls or other accidents by paying more attention in everyday life.
