Fibrous dysplasia: symptoms and treatment

Fibrous dysplasia is a disease characterized by a systemic lesion of the skeleton, in which the healthy bone tissue is replaced by a connective one. The main factor in the development of the disease is a gene mutation, but clinicians identify many other sources of the disease, which may differ depending on the form of its course.



The disease is characterized by a pronounced clinical picture, in which, in addition to external deformations, pain syndrome and pathological fractures predominate.

The correct diagnosis can be made on the basis of symptoms, but the main role is played by instrumental examinations, in particular, MRI. Treatment in all cases involves surgical intervention.

Etiology

At present, the main causes and mechanism of the onset of the disease remain unclear until the end. However, clinicians believe that the source lies in gene mutations and anomalies in prenatal development.

Clinicians believe that the following predisposing factors are not the last place in the formation of an ailment:


  • hormonal disruption;
  • Significant disorders in the formation and development of cartilage and bones
  • pathology of muscles and ligaments articulating joints
  • genetic predisposition
  • irrational nutrition of the future mother — here it is necessary to attribute the absence in the diet of fresh vegetables and fruits, as well as other products enriched with vitamins and nutrients
  • addiction to bad habits and unfavorable environmental conditions affecting the female body during pregnancy
  • exacerbation of chronic ailments or suffered severe infectious diseases in the period of bearing of the child
  • uncontrolled use of certain medications during pregnancy;
  • the effect of toxic or chemical substances on the woman’s body in the situation
  • having a gynecological problem in the future mother that is directly related to the uterus
  • severe toxicosis
  • water shortage.

It follows that the main risk group is children, but there are cases when such a disease was first diagnosed in a person of advanced age. It is noteworthy that in women, this pathology is diagnosed several times more often than in the strong half of humanity.

Classification

In children and adults, several basic forms of fibrous dysplasia are distinguished:


  1. mono-osseous — characterized by the defeat of only one bone, and symptomatology can occur at any age
  2. polyosseous — differs in that several bones are involved in the pathology, for example, the hips or the shoulder, but only on one side of the body.

To date, the classification of Zatsepin is widely used, which assumes his separation of an ailment into:


  • intraosseous dysplasia — can occur in both mono-osseous and polyosseous forms. During the microscopy, there are focal lesions, but in some cases fibrous tissue can affect the whole body of the bone. Nevertheless, patients with this type of malady do not express bone deformities;
  • total damage — from the previous type is different in that all layers of the bone are affected, which causes the development of bone deformities, and this, in turn, leads to frequent fractures. Based on the name, it becomes clear that this type of disease occurs in a polyosseous form, and the tibia and femur are most often affected;
  • tumor form — in all cases leads to the growth of fibrous tissue. This kind of disease is extremely rare;
  • Albright Syndrome is the most common form that is diagnosed among children. Pathology is rapidly progressing and is fast-moving;
  • fibrotic-cartilaginous type — differs from other types of ailment in that it practically turns into a malignant form in almost all cases
  • calcifying form — this particular form of the disease is rarely diagnosed

Localization of the disease may also differ, most often in pathology involved:


  1. large and small tibia;
  2. ribs and spine
  3. jaw and skull bones
  4. knee joint and humerus.

Fibrous dysplasia of the skull bones has its own classification and it happens:


  • sclerotic — characterized by the formation of areas of pronounced restructuring of bone tissue, which causes its densification. Most often such changes are observed at the base of the skull, nose bones, frontal and maxillary bones;
  • cyst-like — often affects the mandibular bone. Cystiform neoplasms can be multiple and single
  • paget-like — skull deformation occurs with Paget’s disease and is expressed in a significant increase in the brain area of ​​the skull.

Symptoms

Clinical manifestations of the disease will be slightly different, depending on the location of the pathological process.

Fibrotic dysplasia of the tibia has the following clinical manifestations:


  1. shortening of the thigh;
  2. pathological fractures;
  3. tibial fractures
  4. limp during walking.

Fibrous dysplasia of the knee joint is expressed in:





  • painful sensations, the intensity of which increases under the influence of heavy physical exertion or with a sudden change in weather conditions
  • characteristic crunches of joints, during flexion and extension movements of the knee
  • changing the shape of not only the joint, but also the patella;
  • partial or complete change in the shape of the lower limbs;
  • increasing mobility of knees.

Fibrous dysplasia of the jaws is characterized by:


  1. a thickening of the lower or upper jaw;
  2. Deformation of the face
  3. A slow process of puberty.

Fibrous dysplasia of the skull bone leads to the appearance of such signs:


  • malformations of the teeth;
  • reduction of the cranial cavity;
  • overhanging the brain area of ​​the skull over the facial
  • change in the volume of the paranasal sinuses
  • deformation of the first vertebra.

Often, such a variety leads to dysplasia of the hip joint and spine, which leads to various violations of posture.

In cases of localization of pathology in the humerus, the disturbance of the mobility of the affected upper limb comes to the fore.

Albright’s syndrome has the most pronounced symptoms, among which:


  1. disruption of endocrine system functioning
  2. premature puberty in girls
  3. violation of the proportions of the trunk
  4. skin pigmentation of focal lesions
  5. severe deformities of bones.

In addition, this form of such a disease is often accompanied by improper operation of internal organs and systems.

Diagnostics

An experienced doctor will be able to correctly diagnose on the basis of the presence of specific signs. The primary examination should include:


  • a detailed patient questionnaire needed to determine the first time of onset and intensity of symptomatology
  • study of medical history and history of life — to search for a predisposing etiologic factor
  • A thorough physical examination of the affected area, its palpation and percussion

Diagnosis of fibrous bone dysplasia does not involve laboratory tests of blood, urine and feces, since they have no diagnostic value.

Among the instrumental diagnostic techniques are:


  1. radiography
  2. Densitometry
  3. CT and MRI.

Treatment

The use of conservative methods of therapy in most cases does not give positive results, why after the establishment of the final diagnosis for an adult or child an operation is assigned.

Treatment of fibrotic dysplasia is carried out:


  • osteotomy
  • resection of the affected area of ​​the bone with subsequent replacement with a bone graft
  • bone elongation — only in cases of shortening.

Polyostic fibrosis dysplasia may limit the possibility of conducting operative therapy. In such cases, the treatment will include:


  1. wearing orthopedic shoes and other devices that reduce the load on bones and joints
  2. the course of the therapeutic massage;
  3. physiotherapy procedures
  4. exercise therapy

Prevention and Forecast

Since the mechanism of development of pathology is unknown, in order to avoid the development of such a disease it is necessary to follow the general rules:


  • lead a healthy lifestyle during pregnancy and avoid missing obstetrician-gynecologist visits
  • observe safety rules when working with hazardous substances
  • Properly and nutritionally balanced
  • maintain normal body weight
  • exclude the influence of excessive physical exertion on the most common sites of pathology localization
  • Regularly undergo a full medical preventive examination.




The outcome of fibrous dysplasia is often favorable, only a polyosseous form can lead to gross crippling deformations. Complication in the form of formation of a benign neoplasm is observed in 4% of all cases, and malignancy is in 0.2%.