How is fibrous dysplasia of the skull bones treated? Fibrous dysplasia of the skull bones: symptoms and treatment Fibrous dysplasia of the tibia in a child.

18.08.2020

Fibrous dysplasia of the skull bones is a rare genetic disorder characterized by ossification of the structure of the ligaments, muscles and tendons in the affected area, while bone cells are replaced by loose fibrous tissue. Lesions can occur in any part of the skeleton. Locally, the disease can affect both one bone and several.

In fact, this disease is considered a neoplastic, but it rarely degenerates into a malignant tumor.

Scientists are still not fully aware of the causes of the disease. Most often, the disease is diagnosed in children, from birth to 25 years. This is due to the growth of bones and the whole organism.

In this article, you will learn what fibrous dysplasia of the skull bones is, its types and symptoms, as well as the treatment and complication of the disease.

What is fibrous dysplasia of the skull bones?

Fibrous dysplasia of the skull bones

Fibrous dysplasia is a systemic lesion of the skeleton that belongs to the category of tumor-like diseases, but is not a true bone tumor. It occurs due to the abnormal development of the osteogenic mesenchyme (tissue from which bone is subsequently formed). Symptoms are usually present in childhood, but late onset is possible. The literature describes cases when monoosseous fibrous dysplasia was first diagnosed in people of retirement age.
Women get sick more often than men. Degeneration into a benign tumor is possible; malignancy is rare.

The disease was first described in the first half of the 20th century. In 1927, the Russian surgeon Braitsov made a report on the clinical, microscopic and radiological signs of focal fibrous bone degeneration. In 1937, Albright described multifocal fibrous dysplasia, combined with endocrine disorders and characteristic skin changes.

In the literature, fibrous dysplasia can be found under the names Liechtenstein disease, Liechtenstein-Jaffe disease, or Liechtenstein-Braizov disease.

In the same year, Albrecht described multifocal dysplasia in combination with premature puberty and indistinct skin pigmentation. A little later, Jaffe and Liechtenstein investigated single-focal lesions and published conclusions about the causes of their occurrence.

Etiology and pathogenesis

The essence of this disease is reduced to the development of foci of damage to the bone tissue, in which it is replaced by fibrous and fibrous tissue, poor in blood vessels. Along with this, a neoplasm of bone structures is also noted; however, this process, as a rule, is imperfect, characterized by the irregularity of the newly formed bone tissue, the variegation of its structure, the appearance of defective structures, and pronounced resorptive changes.

The lesions are clearly demarcated from normal bone tissue and can be located in any area of \u200b\u200bthe skeleton.

The defeat of the bones of the facial and cerebral parts of the skull is described as a type of fibrous dysplasia, called "bone leontiasis" or "hemicraniosis". The first name is due to extensive bone and fibrous growths that create a characteristic deformation of the skull, in which the patient's face becomes similar to the head of a lion. The term "hemicraniosis" indicates the frequency of unilateral lesions of the skull.

It should be noted that the term "bone leontiasis" does not reflect the essence of the process, but testifies only to the external manifestations of deformity, which can be of the same type in diseases of different pathological nature. However, most often this deformity is accompanied by fibrous dysplasia of the skull bones.

Despite the extensive literature on fibrous dysplasia, the true cause of this disease is still unknown. Only one form of dysplasia - Albright's syndrome - is often combined with hormonal disorders. In other types of dysplasia, significant endocrine changes have not been described. With fibrous dysplasia, there are no biochemical and hematological changes, pain syndrome.

Fibrous dysplasia occurs in all continents, but the highest incidence of facial cranial lesions has been reported in West Africa. In most cases, the disease begins in childhood and affects mainly females.
Slow progression of the lesion usually occurs until the end of puberty, after which the process usually stabilizes. Cases of malignancy of bone lesions are extremely rare and unreliable, but there are pathological fractures, especially of the limb bones, and usually it is the "spontaneous" injury that first reveals the dysplastic bone process. Surgical interventions, especially before the end of puberty, are ineffective, as they lead to a steady recurrence of the lesion.

Fibrous dysplasia accounts for about 5% of all benign bone lesions. However, the true incidence is unknown as many patients are asymptomatic. Localized fibrous dysplasia accounts for 75-80% of cases.

Fibrous dysplasia is a slow-growing lesion that usually appears during periods of bone growth and thus is often seen in individuals in early adolescence and late adolescence. Fibrous dysplasia, which develops in several bones, accounts for 20-25% of all cases, and patients with this form usually show manifestations of this disease at a slightly earlier age (mean age 8 years).

Forms of fibrous dysplasia

There are two main forms of fibrous dysplasia: monoosseous (affecting one bone) and polyosseous (affecting several bones, usually located on one side of the body). The polyossal form develops in childhood and can be combined with endocrine disorders and skin melanosis (Albright's syndrome). The mono-osseous form can manifest at any age; endocrinopathies and skin pigmentation are not observed in patients.

Russian specialists use Zatsepin's clinical classification, which includes the following forms of the disease:

Intraosseous form. It can be monossal or polyossal. Single or multiple foci of fibrous tissue are formed in the bone, in some cases, bone degeneration is observed throughout, but the structure of the cortical layer is preserved, therefore there are no deformations.
Total bone damage. All elements are affected, including the cortical layer and the area of \u200b\u200bthe medullary canal. Due to the total defeat, deformities are gradually formed, and fatigue fractures often occur. Usually there is a polyosseous lesion of the long bones.
Tumor form. It is accompanied by the proliferation of foci of fibrous tissue, which sometimes reach significant sizes. It is rarely detected.
Albright's Syndrome. It manifests itself as polyosseous or almost generalized bone lesions in combination with endocrine disorders, premature puberty in girls, impaired body proportions, focal skin pigmentation, severe deformities of the bones of the trunk and limbs. It is accompanied by progressive disorders from various organs and systems.
Fibrocartilaginous dysplasia. It appears as a predominant degeneration of cartilage, often degeneration into chondrosarcoma is observed.
Calcifying fibroma. A special form of fibrous dysplasia, very rare, usually affects the tibia.

Types of dysplasia in the bones of the skull:

Sclerotic type. Characterized by the formation of areas of intensive restructuring of bone tissue, its compaction, most often in the area of \u200b\u200bthe base of the skull, frontal and maxillary bones, nasal bones. The paranasal sinuses in the area of \u200b\u200bbone growths completely lose their airiness and are replaced by dense structureless bone tissue. If the bones that form the orbit or nasal cavity are affected, deformation and narrowing of these cavities, exophthalmos, impaired nasal breathing, and neurological symptoms occur due to compression of the nerve trunks in the narrowed canals. Lesions are often unilateral or asymmetric. The process usually does not spread through the seams of the skull roof.
Cyst-like type. It most often develops in the mandibular bone. "Cysts" are single and multiple, often have a wavy outline and a clear cortical rim, an almost regular rounded shape. Inside the zones of enlightenment, small-point foci of calcification or islands of structureless bone tissue can be found. The cortical layer along the lower edge of the body of the jaw is disentangled often expands from the inside, but is not interrupted anywhere. Osteoporosis and periosteal reaction are absent. Sections of compacted bone tissue alternate with areas of enlightenment, however, without sharp thickening of the cortex.
Deformation of the skull in Paget's disease is expressed in an increase in the size of the cerebral section of the skull, caused by a significant thickening of the bones of the entire fornix. In this case, the cranial cavity may even decrease. The normal structure of the integumentary bones disappears, the outer compact plate becomes sharply compacted, becomes rough, and instead of the trabecular pattern of the diploe, small multiple rounded areas of compaction of bone tissue appear, alternating with zones of enlightenment.
The bones of the facial skull are usually not changed, and the area of \u200b\u200bthe skull base is sclerosed. The enlarged cerebral section of the skull hangs over the facial one. The anterior cranial fossa protrudes upward, and the sella turcica flattens. The paranasal sinuses are unusually large. In addition to deformation of the cranial cavity, the pelvis and vertebral bodies are also sharply deformed.

Causes of the disease

The reasons for the development of this disease have not yet been fully understood. It is generally accepted that it is based on tumor-like processes that are associated with impaired development of the osteogenic mesenchyme.

Fibrous dysplasia occurs more often in children (among children's neoplasms, fibrous dysplasia accounts for 10%), but it also occurs in adults and the elderly. Women are most susceptible to this disease.

Fibrous dysplasia is caused by a somatic mutation in the GNAS1 gene located on chromosome 20q13.2-13.3. This gene encodes the alpha subunit of the stimulatory protein G, Gsα. Due to this mutation, the amino acid arginine (in the protein) at position 201 (R201) is replaced by the amino acid cysteine \u200b\u200b(R201C) or histidine (R201H).

This abnormal protein stimulates G1 cyclic adenosine monophosphate (AMP) and osteoblasts (cells) to a higher rate of DNA synthesis than in normal cells. This leads to the formation of a fibrous disorganized bone matrix with the formation of primitive bone tissue, which is unable to mature into lamellar bones. The process of mineralization itself is also abnormal.

Signs of the disease

For fibrous skeletal dysplasia, the following symptoms are characteristic:

recurrent fractures, which are observed in 30% of cases
limb deformation: swelling, curvature of its axis
slow bone growth in length
combination with other diseases: rudimentary kidney, hyperthyroidism, congenital atrophy of the optic nerve, fibromyxoid tissue tumors.

The appearance of the deformity directly depends on the degree of pressure on the bone. For example, changes in the humerus and other large bones of the hands usually end in a clavate thickening in the affected area. If the change affects the phalanges of the fingers, they become shorter and look like stumps.

External manifestations of fibrous dysplasia:

If fibrous dysplasia is found in the fibula, then the limb usually remains without deformities.
When a bone larger than the peroneal bone is damaged, the tibia is saber-shaped. It itself grows in length much slower than it should. Such a shortening of the limb cannot but affect the condition of the spinal column.
The patient's spine is bent. The axis of the body is especially significantly disturbed with a one-stage pathological process in the hip and pelvis.
The legs support the weight of the whole body. Such a load cannot but affect the bone structure weakened by the fibrous process.

With a single focal form, the disease is less painful and with less disturbances. Changes outside the skeletal system are not observed. However, if the focus is quite large and the lower limb is affected, the patient may be bothered by pain, and lameness is quite strong with exertion. There is high fatigue in the place of growth of connective tissue. The latter is noticeable when the humerus is damaged under significant loads. Fatigue fractures with this form are also quite possible.

The deformity of the lower skeleton is stronger than the bones of the upper limbs (eg, the humerus or radius) due to strong compression. When the bones of the skull, especially the facial part, change, the proliferation of connective tissue structures lead to typical changes, which are commonly called the "lion's face". Along with the "shepherd's bone" this manifestation is a characteristic external sign of Braitsev's disease.

In severe deformities, symptoms of compression of the corresponding brain structures may appear, although this is not common. Nevertheless, the following manifestations are possible:

Lethargy.
Violation of intellectual development.
Angiodystonia.
Headaches.
Dizziness.
Signs of the "frontal psyche".
Impaired binocular vision.
Oculomotor pathologies.

Exophthalmos (mixing, "bulging" of the eyeball), hypertelorism of the eyes (abnormally increased distance between the paired organs, in this case the eye orbits), thickening of the brow are visually determined.

Symptoms

Severe congenital deformities are usually absent. In the polyossal form, the first symptoms appear in childhood. Bone damage is accompanied by endocrinopathies, skin pigmentation and impaired activity of the cardiovascular system.

The manifestations of the disease are quite varied, the most persistent signs are minor pain (usually in the hips) and progressive deformities. Sometimes the disease is diagnosed only when a pathological fracture occurs.

Usually, with the polyosseous form, damage to the tubular bones is observed: tibia, femur, fibula, humerus, radius and ulna. Of the flat bones, the pelvic bones, skull bones, spine, ribs and scapula are more often affected. Often, the bones of the hands and feet are affected, while the bones of the wrist remain intact. The degree of deformity depends on the localization of the foci of fibrous dysplasia. When a process occurs in the tubular bones of the upper extremities, only their clavate expansion is usually observed. With the defeat of the phalanges, the fingers are shortened, look "chopped off".

The bones of the lower extremities are bent under the weight of the body, characteristic deformities occur. The femur is especially sharply deformed, in half of the cases its shortening is revealed. Due to the progressive curvature of the proximal parts, the bone takes on the shape of a boomerang (shepherd's staff, hockey stick), the greater trochanter "moves" upward, sometimes reaching the level of the pelvic bones. The femoral neck is deformed, lameness occurs. Thigh shortening can be from 1 to 10 cm.

When a focus is formed in the fibula, there is no limb deformity; with damage to the tibia, a saber-like curvature of the lower leg or a slowdown in bone growth in length can be observed. The shortening is usually less pronounced than with a lesion in the femur. Fibrous dysplasia of the iliac and ischial bones causes deformation of the pelvic ring. This, in turn, negatively affects the spine, provoking postural disorders, scoliosis or kyphosis. The situation is aggravated if the process simultaneously affects the hip and pelvic bones, since in such cases the body axis is even more disturbed, and the load on the spine increases.

The mono-osseous form proceeds more favorably, there are no extraosseous pathological manifestations. The severity and nature of deformities vary greatly depending on the location, the size of the lesion and the characteristics of the lesion (total or intraosseous). Pain, lameness, and increased fatigue may occur after loading the affected segment. As with the polyosseous form, pathological fractures are possible.

Diagnostics

The diagnosis is made on the basis of the clinical picture and X-ray data. At the initial stage, X-ray images in the area of \u200b\u200bthe diaphysis or metaphysis of the affected bone reveal areas that look like frosted glass. Then the affected area takes on a characteristic speckled appearance: foci of compaction alternate with areas of enlightenment. Deformation is clearly visible. If a single lesion is found, it is necessary to exclude multiple bone lesions, which in the initial stages may be asymptomatic, therefore, patients are referred for densitometry. If there are suspicious areas, X-rays are taken, if necessary, CT of the bone is used.

It should be borne in mind that fibrous dysplasia, especially monoosseous, can present significant difficulties in the diagnostic process. With mild clinical symptoms, long-term follow-up is often required. To exclude other diseases and assess the state of various organs and systems, it may be necessary to consult a phthisiatrician, oncologist, therapist, cardiologist, endocrinologist and other specialists.

Clinical examination

With fibrous bone dysplasia, an arcuate or angular curvature of the axis of the long tubular bone is noted. In some cases, the endogenous origin of such deformations is clearly visible, i.e. not related to mechanical reasons: for example, not coxa vara, which may be the result of changes in the mechanical properties of bone tissue, but coxa valga.

Bone deformities with monoosseous PD are usually less pronounced than with polyosseous. In some cases, even with a single-bone form of PD, few spots and skin pigmentation are observed.

Radiation diagnostics

In the foci of fibrous dysplasia of the bone, signs of afunctional disorderly bone formation are often noted, which occurs on the basis of skeletal connective tissue. It manifests itself in areas of compaction against the background of a central or eccentric bone defect. The density of the affected area is determined by the amount of coarse-fibrous bone in it and the degree of its mineralization, the compaction does not reach such a significant degree as in the bones of the skull, and may be homogeneous or inhomogeneous.
It is often characterized as a slight "fogging" of the area of \u200b\u200benlightenment. It is sometimes compared to puffs of cigarette smoke, but is most often referred to as a frosted glass seal. The trabecular pattern detected in the foci of FD is usually not as clearly delineated as, for example, with a bone cyst, it is “blurred”. The trabecular pattern can also mimic the bony ridges along the endocortical surface.

The bone structure in the lesions looks amorphous. The cortical layer may be thickened rather than thinned in places.

CT is used mainly to clarify the extent of the lesion, especially in complex anatomical areas. Cysts, including secondary ACCs against the background of fibrous dysplasia of the bone, are characterized by a signal typical of fluid in all pulse sequences. When PD is not complicated by fracture or cysts, the magnetic resonance signal is relatively homogeneous. After contrasting, in 75% of cases, there is a central amplification of the signal from the foci of the PD and in 25% - a peripheral border of amplification.

Differential diagnosis

The polyossal form of fibrous bone dysplasia has to be differentiated from Ollier's disease, rare multiple localizations of GKO, cystic angiomatosis, PCH. In contrast to hyperparathyroid osteodystrophy, with PD, the skeletal lesion is not systemic; clinical and laboratory signs differ. However, isolated cases of PD combination with primary hyperparathyroidism, GKO, and nephrotubulopathies have been described (in the latter case, PD can be combined with osteomalacia).

It should be borne in mind that fibrous bone dysplasia is the most common benign lesion of the ribs.
This form requires differential diagnosis with benign tumors and other tumor-like bone formations, manifesting itself in many ways with radiological symptoms: an area of \u200b\u200benlightenment, often with signs of concomitant bone formation, thinning of the cortical layer, and bone swelling.

However, in most cases, some distinctive features can be noted. For example, an arcuate or angular curvature of the axis of a long tubular bone in other diseases of the group under consideration occurs only after a previous pathological fracture.

If a lesion of one bone is detected, which suggests fibrous dysplasia of the bone, other lesions should be excluded by means of bone scintigraphy or a wide x-ray examination of the skeleton, primarily on the side of the lesion identified.
Sometimes the multiplicity of the lesion is revealed by one X-ray. So, in the case of lesions of the pelvic bones, simultaneous changes in the proximal end of the femur on the same side are most often found, or on a chest x-ray, two or more ribs are affected.

Treatment

In 2006, a gene was discovered, due to a mutation of which fibrous dysplasia occurs. Today, work continues to search for the possibility of blocking this mutation, but all this remains at the level of preliminary laboratory studies. Currently, it is impossible to prevent the development of fibrous dysplasia of the bone, and its treatment, mainly, consists in the surgical removal of deformed tissues and replacing them with grafts.

The treatment of fibrous dysplasia of bones is associated with various difficulties. The largest of them is that there are no means of pathogenetic therapy, since the disease is associated with impaired embryonic development. In addition, the causal factors of this pathology are not completely known.

So, Schlumberger believed that at the heart of fibrous osteodiplasia are perverted reactions of bone tissue to traumatic injury. Not all patients have osteoblasts functioning normally in order to fully compensate for the formed defect in the bone. Someone has the formation of immature tissue, which is associated with the development of the disease.

Some authors tried to explain the ongoing pathological changes as a consequence of the malfunctioning of the endocrine system. They cited Albright's syndrome in support of this. However, endocrine disorders were not found in all patients. Recklinghausen considered this pathology as a local manifestation of neurofibromatosis. Currently, a certain conditional concept has been adopted regarding the causes and mechanisms of the development of this disease.

It is believed to be an embryonic disorder that occurs after birth due to the presence of a congenital neurological disorder. This is confirmed by the presence of central disturbances in the pituitary and adrenal cortex systems. This circumstance may open up new treatment options (the use of certain pharmacological drugs with endocrine activity).

Measures to prevent pathologically occurring fractures are also very important. In this case, the tactics will be determined by bone mineral density, the level of calcium and phosphorus in the blood. Surgical treatments for fibrous bone dysplasia are not routine. There are certain indications for their use when the probability of obtaining the most favorable result is high.

The main indications are as follows:

Rapid increase in the pathological focus
Persistent pain syndrome associated with fibrous osteodysplasia
The presence of a fracture of a certain localization, in which there is a huge threat to the patient's life
The presence of focal cysts.

The main stages of surgical treatment are as follows:

Removal of a bone site affected by a pathological process
Removing content
Filling the cavity with a homograft
A long period of immobilization of the limb for the formation of a strong callus.

In childhood, radical surgery is most often used. It aims to completely limit the spread of this disease. Further bone growth is provided by the stimulation of osteoblasts. If false joints are formed regardless of the patient's age, then the Iliazarov apparatus is used. They help prevent limb shortening.

Fibrous dysplasia of the skull

The proliferation of fibrous tissue in the region of the skull always leads to its deformation and asymmetry, but more accurate manifestations are determined by the localization of the focus:

The defeat of the jaw is characterized by its thickening and visual expansion of the upper or lower part of the face. Fibrous dysplasia of the lower jaw is more common. It develops near the large and small molars, and looks like a swelling of the cheeks.
Pathology in the forehead or crown is especially dangerous, since it can cause displacement of the bone plate and pressure on the brain
Against the background of endocrine disorders, the disease can provoke the proliferation of fibrous tissue at the base of the skull and a malfunction of the pituitary gland.

Consequences: body imbalance, local pigmentation, disruption of communication in the work of internal organs and systems.
If fibrous dysplasia of the bones of the skull is diagnosed in childhood, treatment involves sparing surgery. Adults will undergo resection of the damaged area of \u200b\u200bthe bone, followed by transplantation. In the course of treatment, drugs may be shown that inhibit the development of the focus, relieve the pain symptom and stimulate the compaction of bone tissue.

Fibrous dysplasia of the femur

Since the femur is constantly exposed to great physical stress, deformation processes in its structure quickly become noticeable. They are usually characterized by a curvature of the thigh to the outside and shortening of the limb. In the first stages, this leads to a change in gait, then to severe lameness. Bone curvatures provoke the development of osteoarthritis, which further aggravates the situation.

Since changes in the femur affect the functioning of the entire skeleton, it is especially important to identify pathology at the initial stage. However, whenever fibrous dysplasia of the femur is found, treatment will necessarily involve surgery. It should be said that in most cases it goes well and does not entail complications.

Fibrous dysplasia of the fibula

The defeat of the fibula, as a rule, remains unnoticed for a long time and does not entail severe deformation of the limb. Even pains often do not appear immediately, but only after a while. Compared to the case described above, when diagnosed with fibrous dysplasia of the fibula, the treatment is faster and more effective, although it also implies surgery with resection and transplantation.

Most often, the effect of pathology is limited to a local area of \u200b\u200bthe bone, and does not harm the work of the internal systems of the body. If the lesion is not extensive and is present only on one bone, the prognosis of treatment is favorable and almost always has a positive outcome.

If a deformation of the bones of the extremities or fibrous dysplasia of the skull is diagnosed, treatment should be started immediately, because this is the only way to preserve the maximum amount of healthy bone tissue. Do not waste precious time, contact the specialists of our clinic for quality medical care. The symptomatology of the manifestation is always varied, and therefore, wherever pathology is found, treatment must be selected on an individual basis.

Contraindications to surgery

Surgical intervention in the treatment of fibrous dysplasia has its own contraindications and is not recommended for everyone. It is worth choosing other methods of influence when:

The disease has just begun to develop, 1-2 of its foci are still small and do not pose a particular threat
We are talking about a child and the location of a small lesion is not subject to strong compression. In this case, it is likely that the development of pathology will come to naught on its own, however, constant medical supervision is still required
The process is widespread and involves many bones. Such patients are recommended other methods of treatment, including medication.

Important: at whatever stage fibrous dysplasia is not detected, contraindications to its surgical treatment are not a reason to despair.
Today, medicine has sufficient capabilities to make positive predictions in cases with the most extensive lesions.

Consequences of neglected pathology

Untimely access to a doctor provokes the following complications:

Malignant transformation - tumors, chondrosarcomas, osteosarcomas, fibrosarcomas.
Against the background of the disease, concomitant pathology develops - impaired hearing, vision, migraines appear, rickets develops, the heart rhythm is disturbed.
Gigantism and acromegaly - increased activity of growth hormone.

Doctors' predictions are often disappointing. Although, in most cases, this is not a fatal disease, it often leads to disability.

Against the background of frequent fractures, the natural fixation of the skeleton is disturbed, the general proportion of the body structure is disturbed. At the same time, with single or small foci of fibrous bone dysplasia, the prognosis is positive. It is not dangerous and poses no threat.

Composing approximately 5.5% of all bone diseases and 9.5% of benign bone tumors (according to the data provided by MV Volkov), the disease nevertheless deserves more attention. Every year more and more children and the elderly are ill with her.

Incorrectly formed bone organs decrease the supporting function of the skeleton. This anomaly is accompanied not only by bone deformation, but also by frequent fractures. With multiple localization, it can lead to disability.

Complications

The recurrence rate of fibrous dysplasia, even after curettage and bone grafting, is high. However, most solitary lesions stabilize with skeletal maturity. As a rule, a single form does not transform into a plural form.

Fibrous dysplasia is a pathology that leads to the replacement of connective bone tissue, interspersed with bone trabeculae. This type of bone dysplasia is included in the category of tumor diseases. Distinguish between mono-osseous (one bone is subject to deformation) and multiple type of ailment (curvature affects several bones).

The causes of the disease are not fully understood. Many doctors suggest a hereditary predisposition or intrauterine developmental disorder of the fetus. Consider what symptoms are characteristic of fibrous bone dysplasia and the rules for treating the disease.

Fibrous dysplasia: a description of the disease

Fibrous dysplasia of the bone is also called Braitsev Lichtenstein's disease in honor of the discoverers of the disease. The Russian surgeon Braitsev described the signs of pathology in his report, and Liechtenstein investigated the foci of polyossal lesions and made conclusions about the causes of their occurrence. M85.0 is the code of fibrous bone dysplasia according to ICD 10 (International Classification of Diseases 10 revision).

Fibrous osteodysplasia is a systemic deformity of the skeleton, which is referred to as tumor ailments, although it is not a true neoplasm. It develops due to a violation of the formation of osteogenic tissue - cells from which the bones of the lower leg and thigh are subsequently formed.

In most cases, fibrous dysplasia of the lower extremities occurs in childhood, its later development is less common. Women suffer from pathology more often than males.

Interesting!
Usually fibrous dysplasia is a benign neoplasm, malignancy (transformation into a malignant tumor) is recorded very rarely.

The pathology should not be confused with ossifying fibrodysplasia, a rare disease representing the irreversible degeneration of the soft tissue of the skeleton into bone. Tendons, muscles and fascia are affected by pathologies. Fibrodysplasia is characterized by attacks of swelling of soft tissues, which indicates the process of degeneration.

Varieties of dysplasia

Experts classify fibrous dysplasia into:

Monossal form - one joint is affected. It occurs in both children and adults;
Poliossal - pathology affects several joints on one side of the body. It is diagnosed in childhood and adolescence, develops against the background of endocrine disorders.

Another popular classification of dysplasia was proposed by the Russian clinical surgeon Zatsepin. He divides fibrotic pathology into:

Intraosseous lesion - affects one or more joints in which areas of fibrous tissue are formed, in rare cases, bone tissue degenerates along its entire length. But the upper (cortical) layer remains unchanged, so there is no curvature;
Complete (total) pathology - degeneration affects all parts of the joint, including the medullary canal and the upper layer. This leads to limb deformity and fatigue fractures. Most often, this form of dysplasia develops in the long bones;
A tumor is a rare form of the disease, which is characterized by a sharp growth of fibrous tissue;
Albright's syndrome is another related pathology. This ailment includes three characteristic features - fibrous dysplasia, focal hyperpigmentation (melanosis) of the dermis, and early puberty. It is accompanied by irreversible deformations of the skeleton and limbs, as well as dysfunction of internal organs and systems;
Cartilaginous fibrous dysplasia consists in replacing cartilaginous tissue with fibrous tissue. Can transform into chondrosarcoma;
Calcifying fibrous dysplasia of the tibia is extremely rare and irreversible.

Symptoms

Birth deformities that are noticeable visually are rare. Usually, the first symptoms of fibrous dysplasia of the knee joint or other joints appear in childhood against the background of skin melanosis, cardiovascular disorders, hormonal imbalance.

The symptoms of the disease are very different. But in most cases, patients complain of pain and bone curvature. The disease is often diagnosed after a habitual (pathological) fracture.

Most susceptible to fibrous dysplasia:

Tubular bones - femur, tibia and fibula, humerus, ulna and radius;
Flat - the bones of the pelvis, spine, skull, ribs and feet.

The level of curvature is due to the localization of fibrous foci. The defeat of the tubular bones of the hands leads to their expansion, the development of dysplasia in the fingers is accompanied by their shortening.

Fibrous dysplasia of the joints of the legs leads to their deformation, which is due to the weight of the body. The thigh bone is shortened in 50% of cases and takes the form of a "boomerang" or "hockey stick". The greater trochanter of the femur rises to the pelvic joint, resulting in deformity of the femoral neck and lameness. The height of a patient with dysplasia may decrease by 1-10 centimeters.

Fibrous dysplasia of the fibula does not lead to a change in the limb, but with a lesion in the tibia, a saber-like deformity and a slowdown in bone growth and shortening of the limb are recorded.

The pathology of the sciatic and iliac joints causes the curvature of the pelvic bones, which provokes pathological conditions of the spinal column - scoliosis or kyphosis.

Interesting!
With simultaneous damage to the femur and pelvic bones, the load on the spine increases due to the displacement of the body axis.

With a mono-axial form of dysplasia, symptoms are less severe. Perhaps the development of pain syndrome, limping, fatigue when loading the damaged joint. Pathological fractures are also diagnosed.

Diagnostics

Diagnosis of pathology includes:

Patient interview;
Initial inspection;
X-ray examination.

Frequent fractures, called pathological, as well as persistent pain and shortening of the leg are important for the diagnosis.

On a note!
Pathology is not always accompanied by pain. It is present in 50% of adults and is completely absent in young patients. This is due to the constant restructuring of bones in children as they grow and their high compensatory ability.

With the help of an X-ray, it is possible to confirm or deny a suspicion of dysplasia. The characteristic features of x-ray dysplasia include:

Bone tissue resembles "frosted glass";
Light foci and areas of compaction alternate;
Dots on the bone;
Obvious curvature of the affected joint.

After finding one lesion of fibrous tissue, you should make sure that there are no other lesions that are asymptomatic. Therefore, an X-ray examination of all bones is performed. And if necessary, CT is performed.

With "blurred" symptoms, the final diagnosis is made only after long-term observation of the dynamics of the pathology. It is important to differentiate the disease from oncological pathologies and bone tuberculosis. To do this, appoint:

Consultation with a phthisiatrician;
Tuberculosis tests;
Study of the parathyroid gland.

Therapy

Conservative treatment is usually not effective. Therefore, after clarifying the diagnosis, the patient is prepared for surgery. Carry out:

Osteotomy;
Resection (excision) of the affected part of the joint and its replacement with an implant;
Bone lengthening (if limb shortening is fixed).

When diagnosing a polyostous variety, the operation is not indicated. Treatment for this form includes:

Special massage course;
Physiotherapy;
Physiotherapy.

Forecast and preventive measures

The exact causes of the disease are not fully understood, therefore, preventive measures include compliance with the general rules:

Rejection of bad habits;
Healthy food;
Systematic visits to the gynecologist during pregnancy;
Weight control;
Elimination of excessive stress on the joints;
Systematic preventive examination by a doctor.

The prognosis for patients with fibrous dysplasia in most cases is positive. An exception is the polyossal variety, which leads to irreversible deformations. The growth of pathology into a benign tumor is observed in 4%, and into a malignant neoplasm - only in 0.2% of cases.

Fibrous dysplasia is a bone disease, which is based on a tumor-like process associated with abnormal development of the osteogenic mesenchyme. In this case, the process of replacing bone tissue with fibrous tissue occurs, as a result of which deformation of the bones occurs. The reasons for the development of this pathology are not clear enough. Depending on the spread of the lesion, a distinction is made between monoosseous (when one bone is involved in the process) and polyosseous (when several bones are affected) forms of fibrous dysplasia.

In the available literature, we were unable to find information on fibrous dysplasia of the skull base, and therefore we consider it appropriate to cite our own observation of a patient with polyosseous fibrous dysplasia of the skull base, in whom we performed an operation according to our own technique to remove the lesion.

Patient N., 35 years old, was admitted to the department on 03/14/91 with complaints of constant headache, protrusion of the left eyeball and double vision. The disease began in early 1989, “when the patient noticed a protrusion of the left eyeball. In the future, this was joined by headache and double vision. When visiting a doctor, the patient was diagnosed with glaucoma and prescribed symptomatic treatment, which did not improve her condition. CT scan revealed “neoplasm of the skull base. The patient was sent to our department to decide on the possibility of surgical intervention.

On admission, the patient's condition is satisfactory, left-sided exophthalmos is noted. No pathological changes were found on the part of the internal and ENT organs. Indicators of blood and urine tests without pathological changes.

The conclusion of the ophthalmologist: left-sided exophthalmos, the initial phenomena of stagnation of the papilla of the optic nerve. Vision is satisfactory (Vis.OD \u003d 1.0; OS \u003d 0.9). The mobility of the eyeballs is not limited.

Computed tomograms show a compact compaction characteristic of dysplastic bone disease, localized mainly in the body of the sphenoid bone on the left (Fig. 1, a. Focuses of "swelling" of the sphenoid bone are seen, due to which its body acquires a rounded shape. the anterior and lateral surfaces of the large, as well as the lower surface of the lesser wing of the sphenoid bone.Due to deformation of the posterior sections of the upper and outer walls of the left orbit, the upper orbital fissure is narrowed. Compression of the optic nerve and displacement of the left eyeball anteriorly (Fig. 1, b).

On April 25, 1991, an operation was performed - removal of the focus of fibrous dysplasia of the skull base by approach through the infratemporal fossa on the left. Under endotracheal anesthesia, an arcuate skin incision was made, starting from the anterior edge of the left temporal region and ending at the level of the auricle lobe. After dissection of the subcutaneous fat layer, the separation and displacement of the skin flap were performed until the temporoparotid region was exposed. Further, the zygomatic arch is dissected obliquely on both sides, after which the temporal muscle is separated from the bone (later the muscle is used to obliterate the postoperative cavity). After the downward displacement of the mobilized temporal muscle and the dissected zygomatic arch (together with the attached masticatory muscle), the temporomandibular joint ligaments were dissected. Then, with the help of the Gosse retractor inserted into the operating wound (one hook of the expander is inserted into the glenoid fossa), the head of the lower jaw is displaced downward. This made it possible to expand the operating wound, separate the soft tissues from the base of the skull and expose the infratemporal fossa. The highlighted middle artery of the dura mater is coagulated and dissected near the spinous foramen. Starting from the lateral surface of the greater wing of the sphenoid bone, under the control of an operating microscope using a bur and an electric suction, the infratemporal ridge and the zygomatic edge of the temporal surface of the greater wing of the same bone were removed. The bones were resected until the surface of the dura mater of the temporal lobe of the brain was exposed. At this stage of the operation, the infratemporal fossa was reached, on the upper wall of which (at the level of the body of the sphenoid bone) there was a whitish-gray focus of pathological tissue. The visible part of the pathological tissue reached the anterior part of the bottom of the temporal fossa (to the lateral surface of the large wing of the sphenoid bone). Using a bur and surgical trays (under the control of an operating microscope), foci of pathological tissue were removed along with the affected areas of the skull base and bones of the facial skeleton. It was found that the upper, anterior and lateral surfaces of the large wing, as well as the lower surface of the lesser wing of the sphenoid bone were involved in the pathological process. After the implementation of hemostasis, the postoperative cavity was obliterated with the temporal muscle, which also filled the defects that appeared after the operation on the base of the skull, the posterior parts of the upper and outer walls of the orbit. Then the head of the lower jaw is returned to the glenoid fossa, and the zygomatic arch is fixed with a wire in its original place. At the final stage of the operation, the surgical wound was drained and the skin was sutured.

A histopathological examination revealed fibrous connective tissue in the preparation, replacing the bone marrow. In some of its areas, poorly known bone beams are determined, forming cancellous bone of different maturity. In some places, the fibrous tissue consists of chaotically located bundles of mature collagen fibers and spindle-shaped cells. Conclusion: fibrous dysplasia.

The patient was discharged from the hospital in good condition on the 31st day after the operation. The exophthalmos and diplopia disappeared. On examination 6 and 12 months after the operation, the patient had no complaints. No signs of recurrence of the disease were found on computed tomograms (Fig. 2,).

Thus, this observation indicates the possibility of the development of polyosseous fibrous dysplasia at the base of the skull, which is difficult to recognize. Surgical intervention is the optimal treatment for patients with this pathology. Radicalism of the intervention can be achieved by surgery (according to the author) using the infratemporal fossa approach. CT allows you to identify pathological tissue in a given pathology, to determine the boundaries of the spread of the lesion and to judge the effectiveness of the treatment.

Literature

1.Rzayev P.M. Method for removing a tumor of the base of the skull. Patent 980024 dated 09.11.92. Official Bulletin of the Patent and Licensing Committee on Science and Technology of the Republic of Azerbaijan. Baku 1998; 37-38.

(2) Strukov A.I., Serov V.V. Pathological Anatomy: Textbook. Ed. 3rd, rev. and add. M: Medicine 1993; 688.

Despite the fact that we live in the age of modern technology, and, it would seem, most of the diseases are thoroughly studied. But still, there are still diseases, the causes of which are not yet known. These diseases include fibrous dysplasia.

This disease is more of a hereditary anomaly associated with bone marrow disorders and manifests itself in early age development. And despite this, the disease can be detected both at an early stage of development, and already in adulthood.

What types is fibrous dysplasia classified into? What diagnostic methods exist, and what symptoms are accompanied by the disease? What are the risks and complications? You can read everything about the disease below.

Fibrous dysplasia: epidemiology

Fibrous dysplasia

Despite the fact that fibrous dysplasia of bones was first described by Braitsev, for some time it began to be called Lichtenstein-Jaffe disease. These two scientists only supplemented the description given by Braitsev.

Subsequently, at the initiative of T.P. Vinogradova in 1973, this pathology was renamed Braitsev-Lichtenstein disease in the entire world literature. According to the discoverer, the cause of the development of osteofibrous dysplasia was considered to be the impaired work of the mesenchyme, which reproduces the bone tissue of the fibrous type.

As a result, the latter has a complete and defective structure. Therefore, fibrosis of the bone marrow occurs with a tendency to its proliferation and the formation of a typical osteoid. Such disorders develop even in the embryonic period under the influence of uncertain factors. They can spread either to a portion of the bone, or to the entire bone, or involve several bones in a row.

Fibrous dysplasia accounts for about 5% of all benign bone lesions. However, the true incidence is unknown as many patients are asymptomatic. Localized fibrous dysplasia accounts for 75-80% of cases.

Fibrous dysplasia is a slow-growing lesion that usually appears during periods of bone growth and thus is often seen in individuals in early adolescence and late adolescence.

Fibrous dysplasia, which develops in several bones, accounts for 20-25% of all cases, and patients with this form usually show manifestations of this disease at a slightly earlier age (average age 8 years).

Pregnancy can cause increased lesion growth. Males and females develop this disorder equally, although the multiple variant that is associated with McCune-Albright syndrome is most common in women.

Fibrous dysplasia is a non-inherited bone developmental abnormality in which normal bone is replaced by fibrous bone. This condition was first described in 1942 by Liechtenstein and Jaffa. Hence, fibrous dysplasia is sometimes called Liechtenstein-Jaffe disease. The disease process can be localized in one or more bones.

Localized fibrous dysplasia can occur as part of McCune-Albright or Mazabroud syndrome. Fibrous dysplasia can also develop in connection with other endocrine dysfunctions, for example, with hyperthyroidism, hyperparathyroidism, acromegaly, diabetes mellitus, Cushing's syndrome.

Fibrous dysplasia [FD] (or Braitsev-Lichtenstein disease) is a benign pathological process in which fibrous connective tissue grows in the bones of the skeleton instead of normal bone tissue (in its morphology, FD is close to true tumors, it is referred to as tumor-like processes).

At the heart of fibrous dysplasia, according to most experts, is an anomaly in the development of osteoblastic mesenchyme, which loses its ability to transform into cartilaginous and bone tissue and transforms into fibrous connective tissue.

The disease begins in childhood, but due to the frequent prolonged asymptomatic course, it can be detected at any age. Among the provoking factors, the most important are injuries, local infection, metabolic disorders, toxicosis of a pregnant woman, tooth extraction, UHF therapy.

The activation of the growth of the current process occurs after a biopsy, the use of oral contraceptives, and the formation of the menstrual cycle. One of the probable reasons is the impact of toxic industrial waste on the body of the pregnant woman and the fetus.

Based on the fact that the process is often found in early childhood, it can be assumed that it is congenital (mutation of the gene encoding the α subunit of the G protein in chromosome 20q13.2-13.3). PD progresses slowly, and after the onset of puberty it stabilizes; however, the affected bone organ remains structurally and functionally defective for life.

FD most often occurs in childhood and, according to a number of authors, accounts for from 2 to 18% of tumor-like bone formations, of which about 20 - 40% are maxillofacial localization. Most often, the disease is diagnosed at the age of 6 - 15 years, which corresponds to the period of growth of the facial skeleton, change and growth of teeth, change in the level of sex hormones. The female sex predominates in the structure of the disease.

It is believed that fibrous dysplasia is either a congenital hereditary disease or a pathology that has arisen due to a gene mutation in the fetus. But the true causes of the disease have not yet been fully clarified. It does not respond to drug treatment; with an exacerbation of symptoms, surgical intervention is required. Therefore, illness is a big nuisance.

Form classification

Fibrous dysplasia is classified by the number of affected bones into monoosseous and polyosseous. If only one bone is affected, and this happens quite often, the form of dysplasia is called monoosseous. The polyossal form is diagnosed when several bones are affected. Moreover, most of the lesions are located on one side of the body.

Defeat can also be:

focal (fibrocystic bone dysplasia);
diffuse.

Fibrous dysplasia in the bones of the cranial vault manifests itself with some peculiarities. Of all the flat bones, it is the vault of the skull that is most often affected by this pathological process. Often, the defeat of the bones of the skull is observed in several foci at once, but the most common disease is in the frontal and maxillary bones.

Dysplasia of the upper jaw is manifested by a symptom that is called bone lioness. If the lower jaw is changed, a symptom appears called "cherubism". The process is localized in the corner of the jaw, resulting in the formation of characteristic overly rounded cheeks, like a cherub.

The diagnosis is made on the basis of X-ray images and histological examination of pathological growth. Damage to the upper extremities The localization of the disease depends on the stage of osteogenesis at which the disorder occurred.

The upper limbs are usually rarely affected by this disease, more often it happens with the polyosseous form. The defeat of the humerus with fibrous osteodysplasia is the only possible manifestation of pathology on the upper limb.

Most often, bone curvature does not occur, and deformity is expressed only in a uniform thickening. The bone becomes club-shaped. The disease is diagnosed after a pathological fracture. In rare cases, slight shortening or lengthening of the humerus is possible.

The disease is diagnosed on the basis of examination and radiological signs. Lesion of the lower extremities The bones of the legs experience an increased load: they must hold the whole body, therefore, when the bone substance is damaged by fibrous dysplasia, bone deformation is often observed, and the deformations are quite characteristic.

Lameness is an important clinical sign of the disease. This symptom is observed in almost half of the patients, but it is expressed to varying degrees. Most often, lameness occurs when the affected limb is lengthened or shortened. Changes in length occur in almost 100% of cases, so lameness is a constant symptom of the disease. The femur is the largest bone in the skeleton.

It carries a significant load, therefore, with a pathological process in the bone, its deformation almost always occurs and in half of the cases, shortening:

the femur, affected by dysplasia, is bent so that it resembles a shepherd's staff (hockey stick, boomerang);
the proximal bone is sometimes curved so significantly that the greater trochanter is at the level of the pelvic bones;
this leads to deformation of the femoral neck, affects gait (lameness appears), which creates additional stress on the spine.

If the femur is affected, the shortening is usually more significant than with a disease of the tibia: the shortening can be either minor (about 1 cm) or very large (more than 10 cm).

Shortening is formed for a number of reasons:

Under the influence of a significant load, the bone is deformed and, as a result, shortened;
In a pathological focus, growth does not occur in length, but laterally, which leads to a thickening of the bone, but at the same time it loses in length;
If the pathological focus is located in the metaphysis, the thickening may not be accompanied by deformation, and in this case the shortening of the bone will be less;
After a pathological fracture, the risk of bone shortening as a result of improper fusion of fragments increases sharply.

The tibia and fibula relatively rarely become lesions, especially in the isolated form of the disease. If the patient has multiple bone lesions, then the likelihood that one of the lesions will be in the shin bones is very high.

As a result of damage to these bones, limb shortening may even occur, but it is insignificant and such cases are rare. Shortening occurs as a result of saber deformity (anterior curvature), slowing bone growth in length.

In rare cases, fibrous dysplasia affects the calcaneus or bones of the foot. In this case, the spongy substance in the bone is replaced by pathological tissue, the bone becomes fragile, and pain often occurs when walking. The phalanges of the fingers become short and thick, the fingers look like chopped off.

If the pathological focus is localized in the ischium or ilium, this leads to deformation of the pelvic ring, which, in turn, causes deformation of the vertebrae and curvature of the spine.

Causes of occurrence

This leads to the formation of a fibrous disorganized bone matrix with the formation of primitive bone tissue, which is unable to mature into lamellar bones. The process of mineralization itself is also abnormal.

The causes of the disease are not fully understood. A genetic predisposition is possible, but special studies have not been carried out. It is assumed that the disease begins with disturbances in the formation of the mesenchyme at the embryonic stage.

Fibrous dysplasia is caused by a somatic mutation in the GNAS1 gene located on chromosome 20q13.2-13.3. This gene encodes the alpha subunit of the stimulatory protein G, Gsα. Due to this mutation, the amino acid arginine (in the protein) at position 201 (R201) is replaced by the amino acid cysteine \u200b\u200b(R201C) or histidine (R201H). This abnormal protein stimulates G1 cyclic adenosine monophosphate (AMP) and osteoblasts (cells) to a higher rate of DNA synthesis than in normal cells.

The cause of fibrous dysplasia is still not fully understood. The presence of unilateral, and sometimes bilateral with a predominance on one side, of pathological changes indicates early embryonic disorders in the development of mesenchymal tissue. There is no convincing evidence of genetic inheritance of the disease.

Fibrous dysplasia most often manifests itself in childhood and is congenital, but sometimes it is recorded much later. More often women are ill, in 78% of cases a polyossal form of lesion of one limb is recorded.

Fibrous dysplasia is characterized by slow progression (at the very beginning of the disease there is no pain), later gradually the bone thickens, deforms, bends.

In adolescents, after the onset of puberty, development is somewhat suspended, and if dysplasia has not been detected by this time, then the pathology can hide for many years. Often in adults, the disease begins to progress again after a fracture or some kind of severe injury to the femur or tibia.

Currently, it is impossible to prevent the development of fibrous dysplasia of the bone, and its treatment mainly consists in the surgical removal of deformed tissues and replacing them with grafts.

Symptoms and manifestations

The course of the disease in different cases may be different. For unknown reasons, some patients have a slow course, while others have a rapid progression of the pathological process.

Such rapid growth is combined with pronounced cellular polymorphism, which brings it closer to the oncological process (with bone sarcoma). Most often, the tibia is involved in the pathological process, which leads to the patient's characteristic appearance. However, the nature of the clinical picture depends on the location of the lesion.

Common clinical symptoms are as follows:

Change in the shape of the bones Lameness (if the process affects the bones of the lower extremities, which leads to their shortening or lengthening)
Pain at the site of the lesion
Pathological fractures.

Pain syndrome with fibrous bone dysplasia is characterized by certain signs.

These are the following:

Most often they are characteristic of damage to the bones of the lower extremities and the skull, they are practically absent if the upper limbs or bones of the body are involved in the pathological process
The pains have different durations and, accordingly, the degree of limitation of the patient also varies significantly
In the absence of physical activity and during rest, pain practically does not bother a person
Increased pain is observed if a person makes any movements or lifts weights
Lameness and deformity increase pain.

Pain can occur either simultaneously with the onset of deformity, or some time before or after its appearance. Changing the shape of the femur also leads to a characteristic deformation.

It consists in a pronounced curvature of the hip to the outside. In this case, the greater trochanter can practically reach the iliac wing. This leads to a significant change in gait. Such deformation has various names in the medical literature, for example, the shape of a hockey stick, the handle of a jug, etc.

The pathological process that affects the humerus causes its expansion like a club. At the same time, the structure of the hand is also disturbed, the appearance of which resembles chopped off fingers.

This is due to the shortening and thickening of the digital phalanges. Bone curvatures cause joint laxity. This creates conditions for the development of a degenerative-dystrophic process in them (deforming osteoarthritis), which further disrupts the human condition. The situation can be aggravated by improperly healed fractures, in which the bone is finally bent and shortened.

With fibrous bone dysplasia, rarer forms of the disease can also occur, in which the following anatomical structures are affected:

Vertebrae
Ribs
Pelvic bones.

It is important to note one feature of fibrous osteodysplasia. This disease always begins in childhood, then its progression is observed (slow or fast, depending on the action of causal factors).

On the onset of puberty, stabilization of the pathological process is observed. Therefore, treatment of this disease should be started as early as possible in order to keep as many bones as normal as possible.

Patients with small, solitary lesions may not feel any symptoms at all or show any signs, and their bone pathologies may be accidentally detected during X-ray examinations for completely different reasons.

However, bone pain, swelling, and tenderness are the most common symptoms and manifestations in symptomatic patients. Endocrine abnormalities may be the initial manifestation in some patients.

The most common skeletal locations in which solitary fibrous dysplasias develop include:

ribs,
proximal femur,
craniofacial bones,
the back of the upper jaw.

These solitary lesions usually cover only a small segment of bone, but in some cases, this fibrous tissue can span the entire length of the bone. With multiple fibrous dysplasia, the disease can develop from at least two bones to more than 75% of the bones of the skeleton.

This form of fibrous dysplasia is most common in the thigh, lower leg, pelvis, and leg bones. Other sites in which this disease also develops, but less commonly, include the ribs, skull and bones of the upper limbs. And even less often (and even unusually), this form of the disease can develop in the lumbar, cervical spine and in the collarbones.

The most common physical deformities of this disease are leg length mismatches, facial asymmetries, and rib deformities. Fracture is the most common complication of all two types of fibrous dysplasia.

Bone fractures are recorded in more than half of the patients. Many individuals also develop deformities of the bearing bones. Almost 75% of patients with fibrous dysplasia suffer from pain, bone deformities, or pathological fractures.

Malignant transformation of fibrous dysplasia is very rare, the reported incidence is approximately 0.4-4%. More than half of the patients with malignant transformation received radiation therapy.

The most common malignant tumors are osteosarcomas, fibrosarcomas, and chondrosarcomas. Most patients are\u003e 30 years of age. Most of these cancers develop in the bones of the skull, then the thighs, lower legs and pelvis. The rate of malignant transformation is higher in single lesions than in multiple lesions.

Diagnosis of the disease

The main distinguishing features of this disease, which can be detected on an x-ray, are the following:

Varus deviation of the thigh, that is, more to the outer surface
The greater trochanter is positioned above normal level, approaching the wing of the ilium
Increase in bony tubercles in the skull - frontal, occipital and parietal
Increased temporal arch thickness
Smoothness of the back of the nose
Shortening of the bones of the upper and / or lower limb
Speckled inclusions on the general background of the bone
A characteristic feature is "frosted glass", which is determined in the picture of the affected bone
Almost complete absence of the bone marrow canal, which is associated with pathological growth of the imperfect bone
Alternation of foci of enlightenment with foci of compaction.

The presence of certain radiological signs of the disease depends on the duration of the disease and the number of bones involved in the pathological process. It is not at all necessary a combination of all the above symptoms in one patient. The diagnosis of fibrous osteodysplasia should be timely, as well as the subsequent treatment, since this disease belongs to precancerous processes.

The following signs bring it closer to oncological conditions:

The possibility of transition of fibrous osteodysplasia into a true tumor, especially in childhood
Recurrence of the pathological process after surgical removal of the lesion
Some features of morphology
Malignancy, that is, malignancy of the process.

Thus, Braitsev-Lichtenstein disease is a dysplastic process, in which there is a real possibility of fully undeveloped bone tissue into a tumor with pathologically rapid growth and division.

On x-rays, machine operators and other specialists competent in this matter can detect fibrous dysplasia as an intramedullary and well-defined focus in the area of \u200b\u200bthe diaphysis or bone metaphysis.

Lesions can range from fully enlightened to fully sclerotic. However, most lesions have a characteristic hazy appearance or, as it is also called, a frosted glass appearance.

The degree of opacification on x-ray correlates directly with its underlying histopathology. More radiolucent lesions consist predominantly of fibrous elements, while more radiopaque lesions contain a greater proportion of bone tissue. In addition, the lesions may be surrounded by a thick layer of sclerotic reactive tissue called the "skin".

Scintigraphy can be used to determine the extent of the disease. Active fibrous lesions, especially in young patients, significantly increase the uptake of the isotope, this uptake will become less intense as the lesion matures.

But best of all, the extent of the lesion is demonstrated on computed tomography. On CT, in most patients, fibrous dysplasia can be easily distinguished from other lesions in the differential diagnosis.

The diagnosis is made on the basis of anamnesis, examination of the patient, X-ray examination. Such facts as numerous bone fractures, pathological fractures are diagnostically significant.

The disease can be indicated by constant pain (the symptom is more typical for adults), deformity of the limbs. Pain syndrome is present in only half of adult patients and is almost always absent in children.

This is due to the fact that children's bones are gradually physiologically rearranged during growth, they have significant compensatory abilities. The periosteum in children is affected much less frequently and later. The presence and severity of pain syndrome also depends on the location of the focus in the bone.

X-ray examination takes a special place in the diagnosis of fibrous dysplasia:

often in the early stages, bone tissue takes on the appearance of frosted glass;
foci of enlightenment alternate with areas of compaction;
the bone looks speckled on the picture (a characteristic X-ray symptom for this disease);
the deformation of the bones is clearly visible.

If one focus of dysplasia is found, it is necessary to make sure that it is really one, to exclude the presence of other lesions that are still asymptomatic. Therefore, patients are referred for an x-ray of all bones.

CT is used to clarify the clinical situation. If the clinical manifestations are not very pronounced, often the final diagnosis can be made only after long-term follow-up.

The disease differentiates, first of all, with tumors, bone tuberculosis, osteodystrophy of thyroid genesis. Diagnostic assistance will also include: revision of the parathyroid gland; phthisiatrician consultation; setting specific tests for tuberculosis.

Diagnosis is based on history and X-ray examination. Carrying out the latter is mandatory, since this is the best way to study the state of the skeleton and its tissues. Even if the patient asks for help in the early stages of the disease, the x-ray will clearly show deformity foci.

In the picture, these areas will look like frosted glass and contain specific inclusions. If one or more factors are present, the patient can be referred for densitometry and bone CT.

It must be remembered that at very early stages, with a small number of symptoms and one small focus, even with an X-ray examination, it is not always easy to diagnose the disease. To complete the picture and exclude other possible reasons, the patient may be recommended to consult and examine a number of specialists (cardiologist, oncologist, etc.).

Treatment

Not all patients have osteoblasts functioning normally in order to fully compensate for the formed defect in the bone. Someone has the formation of immature tissue, which is associated with the development of the disease. Some authors tried to explain the ongoing pathological changes as a consequence of the malfunctioning of the endocrine system.

They cited Albright's syndrome in support of this. However, endocrine disorders were not found in all patients. Recklinghausen considered this pathology as a local manifestation of neurofibromatosis. Currently, a certain conditional concept has been adopted regarding the causes and mechanisms of the development of this disease.

The main task in the treatment of such patients is to reduce the severity of the manifestations of this pathology and improve the possibility of self-service and performing professional activities. To accomplish this task, in most cases, orthopedic treatment is used.

The main indications are as follows:

Rapid increase in the pathological focus
Persistent pain syndrome associated with fibrous osteodysplasia
The presence of a fracture of a certain localization, in which there is a huge threat to the patient's life
The presence of focal cysts.

The main stages of surgical treatment are as follows:

Removal of a bone site affected by a pathological process
Removing content
Filling the cavity with a homograft
A long period of immobilization of the limb for the formation of a strong callus.

The proliferation of fibrous tissue in the region of the skull always leads to its deformation and asymmetry, but more accurate manifestations are determined by the localization of the focus:

The defeat of the jaw is characterized by its thickening and visual expansion of the upper or lower part of the face. Fibrous dysplasia of the lower jaw is more common. It develops near the large and small molars, and looks like a swelling of the cheeks.
Pathology in the forehead or crown is especially dangerous, since it can cause displacement of the bone plate and pressure on the brain
Against the background of endocrine disorders, the disease can provoke the proliferation of fibrous tissue at the base of the skull and a malfunction of the pituitary gland.

Adults will undergo resection of the damaged area of \u200b\u200bthe bone, followed by transplantation. In the course of treatment, drugs may be shown that inhibit the development of the focus, relieve the pain symptom and stimulate the compaction of bone tissue.

The defeat of the fibula, as a rule, remains unnoticed for a long time and does not entail severe deformation of the limb. Even pains often do not appear immediately, but only after a while. Compared to the case described above, when diagnosed with fibrous dysplasia of the fibula, the treatment is faster and more effective, although it also implies surgery with resection and transplantation.

Risks and complications

Fibrous dysplasia, the treatment of which was not carried out on time, often leads to disability. In addition, the consequence of its advanced forms can be: tumor processes (benign and malignant neoplasms), the development of concomitant diseases (impaired hearing, vision, heart function, etc.), excessive activity of growth hormone.

Do not risk your health if you have fibrous bone dysplasia, the treatment should be entrusted only to highly qualified specialists who have been dealing with this pathology for many years. Not everywhere will be able to provide such a narrow-profile assistance at the proper level, while in our clinic fibrous dysplasia is one of the key areas.

Surgical intervention in the treatment of fibrous dysplasia has its own contraindications and is not recommended for everyone. It is worth choosing other methods of influence when:

The disease has just begun to develop, 1-2 of its foci are still small and do not pose a particular threat
We are talking about a child and the location of a small lesion is not subject to strong compression. In this case, it is likely that the development of pathology will come to naught on its own, however, constant medical supervision is still required
The process is widespread and involves many bones. Such patients are recommended other methods of treatment, including medication.

Important: at whatever stage fibrous dysplasia is not detected, contraindications to its surgical treatment are not a reason to despair. Today, medicine has sufficient capabilities to make positive predictions in cases with the most extensive lesions.

Fibrous dysplasia, unfortunately, cannot be treated with medication. Surgery, osteotomy, curettage, and bone grafting have the best results in relieving symptoms.

Operation at an early age (3-4 years) improves the prognosis, prevents limb shortening and the development of deformity. With a sharp change in the thigh area, alloplasty is combined with extra-bone fixation with a metal plate and corrective osteotomy.

When limb shortening, bone lengthening is performed using a distraction-compression apparatus. In the case of the polyosseous form of fibrous dysplasia, multiple changes limit the possibility of using surgery. The patient is assigned to wear special orthopedic shoes, exercise therapy, massage.

Patients with fibrous dysplasia are advised to reconsider their lifestyle in order to eliminate stress on the femur and tibia (they especially suffer from prolonged standing and sitting in the same position). It is also important to follow your diet and control your weight.

The prognosis for the treatment of pathology is generally favorable (a complication of fibrous dysplasia is observed only in 2% of cases, and mainly if the pathology manifests itself in a patient over 30 years old, in children, complications after surgery and recovery appear only in 0.4% of cases). The main condition for a good result is timely detection of the disease and competent orthopedic treatment.

The method of restoring and relieving symptoms of fibrous dysplasia is selected for each patient individually. It must be remembered that one treatment cannot be limited - after its completion, constant monitoring by a specialist is required, which will reduce the likelihood of relapse, up to the complete disappearance of all signs of pathology.

Multiple forms can be very severe (in their manifestations), but they also (most often) stabilize during puberty. However, existing deformities can progress.

General improvement of the body can be considered as preventive measures: therapeutic exercises, strengthening the muscle corset, massage, therapeutic baths, prevention of fractures, the use of vitamins, etc. It is recommended to abandon bad habits and avoid physical overload.

Sources: redkie-bolezni.com; ruback.ru; stomed.ru; laesus-de-liro.livejournal.com; prokoksartroz.ru; surgeryzone.net; medbe.ru; medservices.info; knigamedika.ru.

megan92 2 weeks ago

Tell me, who is how to deal with joint pain? My knees hurt terribly ((I drink painkillers, but I understand that I am struggling with the investigation, not the cause ... Nifiga does not help!

Daria 2 weeks ago

For several years I fought with my aching joints until I read this article by some Chinese doctor. And I have long forgotten about the "incurable" joints. Such are the things

megan92 12 days ago

Daria 12 days ago

megan92, so I wrote in my first comment) Well, I'll duplicate it, it's not difficult for me, catch it - link to professor's article.

Sonya 10 days ago

Isn't this a divorce? Why are the Internet selling ah?

yulek26 10 days ago

Sonya, what country do you live in? .. They sell on the Internet, because shops and pharmacies put their marginal markup. In addition, payment only after receipt, that is, first looked, checked and only then paid. Yes, and now everything is sold on the Internet - from clothes to TVs, furniture and cars.

Editorial response 10 days ago

Sonia, hello. This drug for the treatment of joints is really not sold through the pharmacy chain in order to avoid overpriced. Today you can order only on Official site... Be healthy!

Sonya 10 days ago

I apologize, I didn't notice the information about cash on delivery at first. Then, it's OK! Everything is in order - exactly if the payment is on receipt. Thank you so much!!))

Margo 8 days ago

Has anyone tried alternative methods of treating joints? Grandma does not trust pills, the poor one has been suffering from pain for many years ...

Andrey 1 week ago

What folk remedies have I tried, nothing helped, it only got worse ...

Ekaterina 1 week ago

I tried to drink a decoction of bay leaves, no sense, only ruined my stomach !! I no longer believe in these folk methods - complete nonsense !!

For the first time, fibrous bone dysplasia was reported in 1927 at the 19th Congress of Russian surgeons. This report belonged to V.R.Braytsev, after whom this disease is now called. But it was not always so. Despite the fact that fibrous dysplasia of bones was first described by Braitsev, for some time it began to be called Lichtenstein-Jaffe disease. These two scientists only supplemented the description given by Braitsev. Subsequently, at the initiative of T.P. Vinogradova in 1973, this pathology was renamed Braitsev-Lichtenstein disease in the entire world literature.

According to the discoverer, the cause of the development of osteofibrous dysplasia was considered to be the impaired work of the mesenchyme, which reproduces the bone tissue of the fibrous type. As a result, the latter has a complete and defective structure. Therefore, fibrosis of the bone marrow occurs with a tendency to its proliferation and the formation of a typical osteoid. Such disorders develop even in the embryonic period under the influence of uncertain factors. They can spread either to a portion of the bone, or to the entire bone, or involve several bones in a row.

Classification

To date, there is no single classification of fibrous bone dysplasia that would satisfy all the requirements of clinicians. Various options for dividing this pathology have been proposed. The most common are the following.

Depending on the number of involved bones, the disease is divided into the following types:

Monostatic - the process affects only one bone
Axial - the long bones of the tubular structure of one of the limbs are affected, for example, the arms or legs
Unilateral - bones on one side are affected, such as bones in the right upper and lower extremities
Bilateral - the bones of the right and left sides are affected.

He does not distinguish between the following forms:

Albright's syndrome - characteristic bone lesions in which there is increased skin pigmentation and puberty in girls, which begins earlier than the age norm
Polyossal - only bones are involved in the process, and 2 or more
Monoosseous - only one bone is affected.

In modern medicine, the most rational classification is considered to be based on clinical and radiological data. According to her, the following forms are distinguished:

Mono-osseous - the disease involves only one bone
Oligosal - 2 or 3 bones
Poliossal, within the framework of which forms without extraosseous manifestations and forms with such are distinguished, for example, an incomplete version of Albright's syndrome
Albright's syndrome
A mixed form, in which not only bone tissue is involved in the pathological process, but also cartilaginous (osteochondral dysplasia).

Symptoms

The course of the disease in different cases may be different. For unknown reasons, some patients have a slow course, while others have a rapid progression of the pathological process. Such rapid growth is combined with pronounced cellular polymorphism, which brings it closer to the oncological process (with bone sarcoma). Most often, the tibia is involved in the pathological process, which leads to the patient's characteristic appearance. However, the nature of the clinical picture depends on the location of the lesion. Common clinical symptoms are as follows:

Reshaping bones
Lameness (if the process affects the bones of the lower extremities, which leads to their shortening or lengthening)
Pain at the site of the lesion
Pathological fractures.

Pain syndrome with fibrous bone dysplasia is characterized by certain signs. These are the following:

Most often they are characteristic of damage to the bones of the lower extremities and the skull, they are practically absent if the upper limbs or bones of the body are involved in the pathological process
The pains have different durations and, accordingly, the degree of limitation of the patient also varies significantly
In the absence of physical activity and during rest, pain practically does not bother a person
Increased pain is observed if a person makes any movements or lifts weights
Lameness and deformity increase pain.

The defeat of the tibia, which is a favorite localization of fibrous osteodysplasia, leads to its curvature anteriorly, as well as to the side. In this case, there is a lateral flattening of the bone and areas of uneven expansion. Pain can occur either simultaneously with the onset of deformity, or some time before or after its appearance.

Changing the shape of the femur also leads to a characteristic deformation. It consists in a pronounced curvature of the hip to the outside. In this case, the greater trochanter can practically reach the iliac wing. This leads to a significant change in gait. Such deformation has various names in the medical literature, for example, the shape of a hockey stick, the handle of a jug, etc.

Bone curvatures cause joint laxity. This creates conditions for the development of a degenerative-dystrophic process in them (deforming osteoarthritis), which further disrupts the human condition. The situation can be aggravated by improperly healed fractures, in which the bone is finally bent and shortened.

With fibrous bone dysplasia, rarer forms of the disease can also occur, in which the following anatomical structures are affected:

Vertebrae
Ribs
Pelvic bones.

It is important to note one feature of fibrous osteodysplasia. This disease always begins in childhood, then its progression is observed (slow or fast, depending on the action of causal factors). On the onset of puberty, stabilization of the pathological process is observed. Therefore, treatment of this disease should be started as early as possible in order to keep as many bones as normal as possible.

Diagnostics

Diagnosis of fibrous dysplasia of bones is largely based on the results of X-ray examination. Its implementation in combination with the assessment of clinical manifestations sharply reduces the percentage of diagnostic errors. The main distinguishing features of this disease, which can be detected on an x-ray, are the following:

Varus deviation of the thigh, that is, more to the outer surface
The greater trochanter is positioned above normal level, approaching the wing of the ilium
Increase in bony tubercles in the skull - frontal, occipital and parietal
Increased temporal arch thickness
Smoothness of the back of the nose
Shortening of the bones of the upper and / or lower limb
Speckled inclusions on the general background of the bone
A characteristic feature is "frosted glass", which is determined in the picture of the affected bone
Almost complete absence of the bone marrow canal, which is associated with pathological growth of the imperfect bone
Alternation of foci of enlightenment with foci of compaction.

The diagnosis of fibrous osteodysplasia should be timely, as well as the subsequent treatment, since this disease belongs to precancerous processes. The following signs bring it closer to oncological conditions:

The possibility of transition of fibrous osteodysplasia into a true tumor, especially in childhood
Recurrence of the pathological process after surgical removal of the lesion
Some features of morphology
Malignancy, that is, malignancy of the process.

Thus, Braitsev-Lichtenstein disease is a dysplastic process, in which there is a real possibility of fully undeveloped bone tissue into a tumor with pathologically rapid growth and division.

Treatment

In addition, the causal factors of this pathology are not completely known. So, Schlumberger believed that at the heart of fibrous osteodiplasia are perverted reactions of bone tissue to traumatic injury. Not all patients have osteoblasts functioning normally in order to fully compensate for the formed defect in the bone. Someone has the formation of immature tissue, which is associated with the development of the disease. Some authors tried to explain the ongoing pathological changes as a consequence of the malfunctioning of the endocrine system. They cited Albright's syndrome in support of this. However, endocrine disorders were not found in all patients. Recklinghausen considered this pathology as a local manifestation of neurofibromatosis.

Currently, a certain conditional concept has been adopted regarding the causes and mechanisms of the development of this disease. It is believed to be an embryonic disorder that occurs after birth due to the presence of a congenital neurological disorder. This is confirmed by the presence of central disturbances in the pituitary and adrenal cortex systems. This circumstance may open up new treatment options (the use of certain pharmacological drugs with endocrine activity).

The main task in the treatment of such patients is to reduce the severity of the manifestations of this pathology and improve the possibility of self-service and performing professional activities. To accomplish this task, in most cases, orthopedic treatment is used. Measures to prevent pathologically occurring fractures are also very important. In this case, the tactics will be determined by bone mineral density, the level of calcium and phosphorus in the blood.

Surgical treatments for fibrous bone dysplasia are not routine. There are certain indications for their use when the probability of obtaining the most favorable result is high. The main indications are as follows:

Rapid increase in the pathological focus
Persistent pain syndrome associated with fibrous osteodysplasia
The presence of a fracture of a certain localization, in which there is a huge threat to the patient's life
The presence of focal cysts.

The main stages of surgical treatment are as follows:

Removal of a bone site affected by a pathological process
Removing content
Filling the cavity with a homograft
A long period of immobilization of the limb for the formation of a strong callus.

Which doctor treats

Fibrous dysplasia of the bone is treated by a surgeon or traumatologist, depending on the level of specialization of the medical institution.

How is fibrous dysplasia of the skull bones treated? Fibrous dysplasia of the skull bones: symptoms and treatment Fibrous dysplasia of the tibia in a child.

What is fibrous dysplasia of the skull bones?

Etiology and pathogenesis

Forms of fibrous dysplasia

Causes of the disease

Signs of the disease

Symptoms

Diagnostics

Clinical examination

Radiation diagnostics

Differential diagnosis

Treatment

Fibrous dysplasia of the skull

Fibrous dysplasia of the femur

Fibrous dysplasia of the fibula

Contraindications to surgery

Consequences of neglected pathology

Complications

Fibrous dysplasia: a description of the disease

Varieties of dysplasia

Symptoms

Diagnostics

Therapy

Forecast and preventive measures

Fibrous dysplasia: epidemiology

Form classification

Causes of occurrence

Symptoms and manifestations

Diagnosis of the disease

Treatment

Risks and complications

Classification

Symptoms

Diagnostics

Treatment

Which doctor treats

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