Muscle dysplasia symptoms. Connective tissue dysplasia syndrome in children and adults - causes and symptoms, stages and treatment

The detection rate of connective tissue dysplasia syndrome in children is small, so the topic is poorly covered in information resources. On the other hand, parents need to be aware of this issue, because the diagnosis can be made both in the prenatal and postnatal periods.

With connective tissue dysplasia, there is a high incidence of postural disorders and spinal curvatures

Connective tissue dysplasia - what is it?

The skin, skeleton, adipose, mucous, pigment, and reticular tissues are built from connective tissue - this is the extensive cellular basis of the body, and a disease that affects it can affect the functioning of almost the entire organism. The tissue contains collagen, disturbances in the synthesis of which lead to dysplasia.

Connective tissue dysplasia syndrome (CTD) is one anomaly or a combination of them in the development of connective tissue, which is based on a genetic disorder in the ratio of collagen content.

Classification of dysplasia

Disagreements among scientists do not allow science to identify a general typology. Connective tissue dysplasia is classified according to many criteria. The following classification is preferred by most medical specialists who are directly involved in the treatment of CTD in children, rather than studying it.

Based on heredity, the following types are distinguished:

  1. differentiated dysplasia is a genetically determined disease transmitted along the family line;
  2. undifferentiated dysplasia - the absence of the fact of hereditary transmission of the disease, but the presence of its external and internal signs.

An example of one of the symptoms of DST is shown in the photo.


Hypermobile hand

Causes of pathology

The mechanism of the appearance and development of connective tissue dysplasia in children depends on the following reasons:

  • unconditional (congenital) - genetic mutations during the formation of the composition and amount of collagen in connective tissue;
  • conditional (acquired during life) - poor environment, domestic accidents, poor quality nutrition, etc.

Symptoms of connective tissue dysplasia

General disorders in DST allow symptoms to be divided into certain groups:

  • arrhythmic syndrome: abnormal contractions of the heart or its individual chambers;
  • asthenic syndrome: increased fatigue, inability to tolerate normal physical or psycho-emotional stress;
  • bronchopulmonary DST: causeless coughing attacks, heavy breathing, shortness of breath, suffocation or the feeling of a foreign object in the throat, stabbing pain in the lungs, accumulation of poorly expectorated sputum;
  • vertebrogenic syndrome: frequent headaches, migraines, dizziness, fainting, intervertebral hernia, pain radiating to the buttock, shoulder or arm, weakness, loss of sensation in the legs, colic in the chest when staying in one position for a long time, etc.;

Connective tissue dysplasia may occur without visible symptoms, or may manifest itself through various disturbances in the functioning of the body.
  • visceral syndrome: pain in the kidneys, prolapse of elements of the gastrointestinal tract, genital organs in women;
  • hemorrhagic dysplasia;
  • valvular DST: disturbances in the functioning of the heart valves;
  • cosmetic syndrome: asymmetry of the face, jaws, palate, deformation of the limbs, skin (thin skin, easily injured);
  • mental state disorder: disorders, depression, anorexia, increased anxiety, hypochondria;
  • syndrome of neurological disorders: vegetative-vascular dystonia;
  • vascular DST: damage to arteries and veins;
  • sudden death syndrome (more details in the article:);
  • syndrome of abnormalities in the organ of vision: myopia, farsightedness, change in the shape of the lens, corneal detachment;
  • foot pathology syndrome: clubfoot, flatfoot, cavus foot (see also:);
  • syndrome of increased mobility of joints: instability of joints of the limbs, their parts, dislocations, subluxations;
  • thoracodiaphragmatic syndrome: deformation and changes in the chest, diaphragm, spine (see also:);
  • thoradiaphragmatic heart (pulmonary heart);
  • fibrous dysplasia: excessive growth of cells in the walls of blood vessels of muscle tissue, carotid arteries or kidneys.

Treatment methods

Treatment of connective tissue dysplasia, in the direct sense of this concept, does not provide a complete cure for genetic pathology, but has a positive effect on the child’s life.

Treatment may consist of taking medications, proper physical activity and exercises, proper nutrition, and the use of folk remedies.

Drug therapy

It is not recommended to make a decision to purchase any medications for a child without the special instructions of a medical specialist. To treat DST, the doctor prescribes the following drugs to the patient:

  • metabolic - Ascorbic acid, Glycine, Asporcam;
  • vitamins with magnesium - Magnicum, Magne B6, Magvit;
  • antibiotics;
  • medications for vegetative-vascular dystonia - Mexidol, Tenoten (we recommend reading:);
  • - Phenibut, Baby-sed (we recommend reading:);
  • heart medications - Riboxin, Panangin, Cytochrome C;
  • vitamins to improve the formation of collagen fibers - Collagen Ultra, Geladrink Forte.


Therapeutic treatment

Therapeutic approaches to the treatment of connective tissue dysplasia include the following methods:

  • etiotropic therapy - removal of the source of the disease, for example, elimination of a virus or bacteria with medications;
  • pathogenetic - used when an organ is unable to restore a particular function due to limited advances in medicine (for example, taking collagen preparations in the absence of production of interarticular fluid);
  • symptomatic - eliminating the symptom, for example, by administering a sedative to calm nervousness;
  • chemical and biological - treatment with drugs or herbs;
  • physical – physiotherapy, massage, physical therapy for muscle strengthening.

Traditional methods

No matter how safe the traditional treatment method may seem, it is necessary to consult a doctor about its use for a child. Medicinal herbs can be used for treatment, from which decoctions and tinctures are prepared. For DST associated with the heart, hawthorn will help, and for pulmonary, hemorrhoidal and bacterial problems, sage is suitable. Nervous disorders are eliminated by using motherwort and valerian; decreased immunity – consumption of wild rosemary. There are many medicinal herbs, and choosing a special collection will not be difficult for a parent.


Motherwort tea is used to normalize the nervous system and eliminate headaches

Diet

It is necessary to follow a meal schedule - at the same time, no earlier than half an hour after the child wakes up, and no later than an hour and a half before his sleep. Proper nutrition includes eating:

  • collagen-containing products: meat (highest content in beef, turkey), salmon fish, seaweed;
  • collagen-synthesizing foods: products with vitamin C containing soy, oatmeal, beef and poultry liver, bananas.

Surgical intervention

With DST, it is sometimes impossible to do without correction through surgery. This type of treatment is chosen for certain indications: serious vascular pathologies, bulging valves of the heart muscle valves, obvious deformities of the spine or chest. Surgery is necessary if the condition poses a threat to a person's life and impairs its quality.

Congenital problems are not uncommon nowadays, because a pregnant woman and her child are affected by a huge number of negative factors, from poor ecology, heredity, to stress at work. The combination of all these points cannot provoke a lot of different diseases.

Connective tissue dysplasia is a collection of various symptoms that appear during the development of a child. Often this disease is accompanied by problems with the joints, spine and even teeth; the child’s bite changes; flat feet and other unpleasant diseases may also appear.

Connective tissue dysplasia is a disorder of its development that occurs through mutations in genes. Typically, connective tissue is found in all parts of the body and forms the basis of organs, tissues and muscles. It can be loose or dense, and consists of intercellular substance, cells and fibers.

Thanks to the substances collagen and elastin, connective tissue is elastic, strong, it can withstand heavy loads and protect joints from injury. But when the gene responsible for the production of collagen and elastin is mutated, connective tissue is not formed correctly, it loses its elasticity and cannot cope with its job.

Connective tissue allows the entire musculoskeletal system to function normally, and if it is underdeveloped, then under the most ordinary loads the joints and skeleton become deformed, causing pain to the child and making him disabled. It is important to note that the disease does not manifest itself immediately and disorders may not be noticeable for a long time.

Reasons

The disease occurs when the synthesis of collagen and elastin, as well as enzymes necessary for connective tissue, is disrupted. In the body of a healthy person, there are 40 genes that are responsible for the production of substances necessary in a particular case, and if any mutation occurs in one of them, for example, a protein replacement, then disorders appear.

The exact cause of such mutations is not known, but doctors note that in cases where the mother’s body was affected by the following negative factors, the risk of the disease is higher:

  • Poor maternal nutrition, vitamin deficiency. In particular, it was noted that the disease may be associated with a lack of magnesium.
  • Poor ecology often causes various mutations;
  • Bad habits of the mother before pregnancy, these include smoking, alcohol and especially drug addiction;
  • Chronic stress;
  • Complicated pregnancy;
  • Infections in the mother.

In general, many factors that negatively affect human health can give rise to mutation when conceiving a child. These include even long periods of exposure to the open sun, working in hazardous industries, and much more.

Species

Connective tissue dysplasia in children is not a separate disease, it is a collection of various signs and symptoms, and is divided into two types:

  • Differentiated dysplasia usually rarely appears in children, it is characterized by local damage to one or more organs, and can appear in the joints, skin and spine. This disease is detected immediately, as it is accompanied by obvious symptoms. For example, we can cite a disease such as osteogenesis imperfecta. In this case, the patient suffers from increased fragility of bones, the texture of which is disrupted due to improper collagen synthesis. Also in this case can be attributed a disease called lax skin syndrome, when it lacks collagen. With this disease, the skin sags and the child becomes like an old man.
  • Undifferentiated connective tissue dysplasia (UCTD) is most common and affects people of all ages. This diagnosis is made if differentiated dysplasia cannot be established. With undifferentiated dysplasia, it is not local areas of the body that are affected, but almost all tissues to one degree or another.

Symptoms

Typically, when visiting a specialist, the patient voices a large number of complaints:

  • poor appetite and abdominal pain, gastrointestinal problems;
  • decreased performance, drowsiness and general weakness;
  • low blood pressure;
  • frequent lung infections, bronchitis;

Connective tissue dysplasia, as a rule, is not diagnosed immediately. Symptoms occur both individually and all at once, but it is impossible to immediately diagnose them, since they resemble a number of other diseases. During the examination, the doctor pays attention to the following symptoms:

  • curvature of the spine;
  • underweight;
  • curvature of the chest;
  • changes in body proportions, for example, arms or legs can lengthen symmetrically;
  • too high plasticity of the joint, when the patient can rotate the limb 90 degrees;
  • various skin pathologies, for example, when it is stretched too much or is easily injured, sagging for no reason;
  • visual impairment;
  • fragile vessels, early varicose veins.

Treatment

At the first visit, the doctor usually interviews the patient and his parents, takes an anamnesis, and, taking into account the symptoms seen, sends for tests. Using special molecular genetic methods, specialists can quickly detect pathology if it is present.

Treatment of connective tissue dysplasia is to reduce unpleasant symptoms and improve quality of life. Since the disease is genetic, it is not possible to cure it completely, but it is quite possible to prolong life as much as possible and make it comfortable.

This disease is treated comprehensively, using the right lifestyle and physiotherapeutic procedures, taking special medications, and in some cases surgery may be indicated.

Many people are interested in which doctor treats connective tissue dysplasia; an orthopedist deals with this. But first of all, the child is usually shown to a pediatrician, who, suspecting the presence of signs of an orthopedic disease, should immediately refer the parents to a specialist.

Patients with connective tissue dysplasia syndrome are prescribed a special diet, sports, such as swimming, and therapeutic massage courses. Doctors also usually prescribe physiotherapy, physical therapy, ultraviolet radiation, special wraps and baths.

The following drugs are prescribed for treatment:

  • magnesium, ascorbic acid - these substances are necessary to promote collagen production;
  • Rumalon - this drug helps restore the intercellular substance;
  • osteogenon - improves metabolism in connective tissue;
  • glycine - improves mental activity and calms, while normalizing amino acid levels;
  • lecithin - improves the child’s overall well-being and gives energy.

Special meals are prescribed, with a lot of meat, fish, seafood, cheese, and nuts. The child should eat quite a lot and often so that the necessary substances enter the body constantly, maintaining a normal level of collagen, this will help stop further destruction of the body.

Surgery is rarely prescribed for children, only in cases of severe deformation of the spine and chest or blood vessels, when surgical intervention is simply necessary. In order not to reach this state, you need to show the child to the doctor at the first complaints.

FTA

Mixed connective tissue disease (MCTD) is a rare pathology that usually occurs among young and middle-aged women; the disease rarely affects men. This disease is hereditary and autoimmune, it occurs in people with the HLA B27 antigen.

Just like dysplasia, mixed disease has a large number of symptoms that can be substituted for other diseases, which greatly complicates diagnosis. Here are a few of them:

  • cold hands, pale fingertips;
  • polyarthritis, disorders of motor activity of joints;
  • skin rashes;
  • baldness;
  • thirst and dry mouth;
  • swollen lymph nodes, fever;
  • redness of the eyes, etc.

Treatment for this disease is aimed at reducing symptoms in order to improve the quality of life, mainly using anti-inflammatory and painkillers and other drugs as needed, for example, cytostatics. If the patient consults a doctor on time, the prognosis for him is usually quite favorable. If the disease is not treated, there is a risk of death due to infections that affect a weakened body.

Prognosis and complications

Connective tissue dysplasia is an incurable genetic disease, but with proper and timely treatment the prognosis can be quite favorable. Usually, if the patient eats well, leads a healthy lifestyle, takes medications according to the schedule and follows all other doctor’s instructions, then his quality of life improves significantly and the disease does not bother him for many years.

It is important to note that dysplasia affects other diseases the patient may have and usually makes the condition worse. Therefore, different people may have completely different prognosis, which can only be accurately stated by the attending physician based on tests.

To reduce the risk of complications, it is necessary to abandon heavy sports, work with vibrations in the future, you should not be nervous and perform stretching exercises for the spine and joints. Also, patients with dysplasia are not recommended to live in countries with hot climates.

Prevention

Prevention of connective tissue dysplasia consists primarily of maintaining a healthy lifestyle for the mother. Before pregnancy, you need to lead a healthy lifestyle, you need to stop taking drugs, abuse alcohol and tobacco. It is also recommended to get tested for infections. A pregnant woman should eat right, try to take care of herself, and avoid injuries and stress.

Connective tissue is an important structural component of every system in the body. Developmental disorders at the cellular and molecular level lead to the formation of certain characteristics and predisposition to many different diseases. The changes can be minimal, limiting functionality, and quite dangerous. Medication and restorative measures for patients with connective tissue dysplasia are aimed at preventing the progression of pathology and reducing existing symptoms.

Basics

Connective tissue dysplasia (CTD) is understood as a genetically determined change in the development and maturation of its intercellular substance, which consists of specific proteins:

  • collagen;
  • elastin;
  • reticular fibers.

Gene mutation leads to changes in the functioning of enzymes or the cells themselves involved in the synthesis and renewal of intercellular elements of connective tissue.

The morphological basis of DST is a violation of the quantity and/or quality of collagen. This component of the cellular structure is responsible for the elasticity, strength and durability of connective tissue. Collagen, like any protein, is represented by a set of certain amino acids. Gene mutation leads to changes in the structure of molecules and their properties.

Dysplasia is literally translated as a disorder, disorder (“dis”) of education, development (“plaseo”).

In the DST group there are diseases with an established etiology and type of inheritance. Thus, Marfan and Ehlers-Danlos syndromes are identified as separate nosologies. The presence of characteristic manifestations in such patients allows us to talk about connective tissue pathology as part of a separate nosological unit. A condition in which the signs of DST do not fit into the picture of specific syndromes is classified as undifferentiated dysplasia.

Hereditary diseases require close attention, since without treatment they form a high risk of shortening life expectancy. Undifferentiated dysplasia has a more favorable course, but often worsens the condition of patients and requires medication or other correction.

Manifestations of DST

Since connective tissue is the most common (occupies 50% of the total body weight), disturbances in its structure lead to changes in various organs. This disease is characterized by a progressive nature.

As a child with CTD grows, more and more signs of dysplasia may appear. The accumulation of impairments associated with the underlying condition usually ends in adults by age 35.

Manifestations of connective tissue dysplasia are varied and are described in the table:

Region or organ

Symptoms

Skin and muscles

  • Easily stretches by 3 or more centimeters, thin, vulnerable.
  • Excessive or insufficient pigmentation.
  • Wounds heal poorly or with the formation of rough scars.
  • There is weakness or lack of muscle development.
  • Hernias, including internal
  • Tall, unnaturally shaped.
  • Deeply located eye sockets, underdeveloped cheekbones.
  • High palate (“arched”).
  • Malocclusion, tooth growth, crowding

Spine

  • Deformation of posture: scoliosis, kyphosis or a combination of both.
  • Absence of normal physiological curves of the spine

Rib cage

Funnel-shaped or keeled deformities

  • Frequent subluxations and dislocations (especially in the same place).
  • Hypermobility (possibility of excessive hyperextension).
  • The patient is unable to extend (straighten) the arm at the elbow to 170 degrees

Hand and foot

  • Long, spider-like fingers (arachnodactyly).
  • An increase in the number of fingers (polydactyly) or their fusion with each other.
  • On the feet, one toe crosses the other.
  • Flat feet
  • Deterioration of vision (myopia over 3 diopters).
  • Dislocation or subluxation of the lens.
  • Blue sclera.
  • Narrow pupil (miosis) due to underdevelopment of the iris
  • Atypical ear shape.
  • The lobe is absent, split, and underdeveloped.
  • Ears stick out
  • Easily injured with the formation of subcutaneous bruises.
  • Varicose veins of the lower extremities in adolescence and young adulthood.
  • Dilatation of the pulmonary artery, aorta in any part of the latter.
  • Aortic dissection (aneurysm), if progressing, poses a high risk of rupture and death
  • Mitral valve prolapse.
  • Additional chords, their atypical location.
  • Disturbances in the structure of heart valves.
  • Aneurysm in the area of ​​the wall between the chambers of the organ

Bronchopulmonary system

  • Collapse of the trachea and bronchi during exhalation.
  • Formation of small cavities in the lungs.
  • Spontaneous rupture of lung tissue with air entering the pleura

Urinary system

  • Prolapse of the kidneys.
  • Backflow of urine (from the bladder to the ureters)

Gastrointestinal tract

  • Reflux, diaphragmatic hernia.
  • Excessive mobility of areas of the colon.
  • Changes in organ size (dolichosigma, dolichocolon)
  • Impaired formation of platelets and hemoglobin.
  • Pathology of blood clotting

Nervous system

Autonomic dystonia

Dysplasia in childhood

In children at birth, attention is paid to the number of stigmas of dysembryogenesis (specific external signs).

Significant stigmatization indicates the need for close examination of the newborn and further vigilance in terms of the manifestation of gene diseases, CTD in particular.

Example of stigma - isolated ear fossa

Dysplasia in children gradually manifests itself as they grow and develop:

  • In the first year of life, signs of DST include rickets, decreased muscle tone and strength, and excessive joint mobility. Clubfoot and hip dysplasia are also a consequence of impaired formation of connective tissue structures.
  • In preschool age (5–6 years), myopia and flat feet often occur.
  • In adolescents, the spine suffers, chest deformities are likely to develop, and mitral valve prolapse is detected.

Manifestations of dysplasia can be isolated. The diversity of the clinical picture often makes it difficult to diagnose the undifferentiated syndrome.

Classification

The ICD qualifies only connective tissue dysplasia, which is included in hereditary syndromes. Other conditions are indicated under the headings of immediate diseases. To summarize, we can distinguish the following forms of probable diseases:

Minor signs (1 point each)

Major signs (2 points each))

Severe symptoms (3 points each)

  • Asthenic physique or lack of body weight;
  • visual impairment in people under 40 years of age;
  • absence of striae on the anterior abdominal wall in those giving birth;
  • decreased muscle tone and low blood pressure;
  • flat feet (I degree);
  • easy formation of hematomas;
  • increased bleeding;
  • postpartum hemorrhage;
  • vegetative-vascular dystonia;
  • disturbance of rhythm and conduction according to ECG;
  • rapid or labor
  • Scoliosis, kyphoscoliosis;
  • flat feet (II–III degrees);
  • excessive skin extensibility;
  • joint hypermobility, tendency to recurrent dislocations and subluxations;
  • allergic predisposition, weak immunity;
  • previous tonsil removal;
  • varicose veins, hemorrhoids;
  • biliary dyskinesia;
  • gastrointestinal motility disorder;
  • hernias in close blood relatives
  • Hernias;
  • organ prolapse;
  • varicose veins and hemorrhoids requiring surgical treatment;
  • dolichosigma (abnormally long sigmoid colon);
  • allergies to many factors and anaphylactic reactions;
  • gastrointestinal motility disorder confirmed by examination

The severity of dysplasia is determined by the sum of the points received:

  • up to 9 - mild or mild;
  • 10–16 - average or moderately expressed;
  • 17 or more - severe or pronounced.

Disability is determined in accordance with the leading underlying disease. Undifferentiated DST can act only as a background condition.

Correction methods

Patients with connective tissue dysplasia undergo basic normalization of lifestyle and nutrition, nutritional support with certain elements and vitamins, and therapy or surgical treatment of established conditions. Certain diseases (myopia, scoliosis, cardiac dystrophy) are treated together with specialists (ophthalmologist, orthopedist, cardiologist).

People with dysplasia are advised to avoid heavy physical activity and prolonged static stress. Daily gymnastics and aerobic exercise (3 times a week) have a positive effect. Swimming and cycling for up to 1 hour have a pronounced effect.

The diet should be rich in protein foods. The menu includes jellied fish and jellied meat. In case of decreased appetite, half an hour before meals, use folk remedies in the form of dandelion infusion or wormwood decoction (1/4 cup each). Additionally, taking vitamins C, E, D, B6 is indicated.

Drug therapy involves the use of magnesium preparations (Magne B6, Magnerot, etc.) or mineral complexes and metabolic agents (Mildronat, Mexicor, Mexidol). Drug treatment is carried out in two or three courses per year for up to 1–2 months, depending on the chosen drug.

Connective tissue dysplasia, or DST, is a genetically determined (caused by genetics) condition of 35% of the total population of the Earth - such data is provided by Professor Alexander Vasiliev, head of the laboratory of the Hematology Research Center under the Ministry of Health of the Russian Federation. Officially, DST is usually called a systemic connective tissue disease, although the term “condition”, due to the prevalence of the phenomenon, is used by many scientists and doctors. Some foreign sources call the proportion of dysplastics (those suffering from dysplasia to varying degrees) - 50% of all people. This discrepancy - from 35% to 50% - is associated with differing international and national approaches to classifying a person into a disease group.

Connective tissue dysplasia

The presence of many approaches to defining the disease indicates that the issue has not been fully studied. They began to study it seriously quite recently, when interdisciplinary medical institutes appeared and an integrated approach to diagnostics began to develop. But even now, in a regular hospital, a diagnosis of connective tissue dysplasia is not always made due to its multifaceted nature and the complexity of the clinical picture.

Connective tissue dysplasia: pathology, its types and clinical manifestations

DST is characterized by genetic disorders in the development of connective tissue - mutational defects in collagen and elastin fibers and the ground substance. As a result of mutations in fibers, their chains are formed either short relative to the norm (deletion), or long (insertion), or they are affected by a point mutation as a result of the inclusion of the wrong amino acid, etc. The quantity/quality and interaction of mutations affect the degree of manifestation of DST, which usually increases from ancestors to descendants.

Such a complex “technology” of the disease makes each patient with DST unique, however, there are also stable mutations that lead to rare types of dysplasia. That's why they highlight two types of DST - differentiated and undifferentiated.

Differentiated connective tissue dysplasia, or DDCT , is characterized by a certain type of inheritance of characteristics and a clear clinical picture. It includes Alport syndrome, Marfan, Sjögren, Ehlers-Danlos syndromes, joint hypermobility, epidermolysis bullosa, “crystal man disease” - osteogenesis imperfecta - and others. DDST is rare and is diagnosed fairly quickly.

Undifferentiated connective tissue dysplasia, or UCTD , manifests itself in a very diverse manner, the lesions are multi-organ in nature: several organs and systems are affected. The clinical picture of UCTD may include separate small and large groups of signs from the list:

  • Skeleton: asthenic build; disproportionate lengthening of limbs and fingers; various vertebral deformities and funnel-shaped/keeled deformities of the chest, various types of flat feet, clubfoot, cavus foot; X/O-shaped limbs.
  • Joints: hypermobility, hip dysplasia, increased risk of dislocations and subluxations.
  • Muscular system: lack of mass, especially oculomotor and cardiac.
  • Skin: the integument is thinned, hyperelastic, and is highly traumatic with the formation of scars with a “tissue paper” pattern and keloid scars.
  • Cardiovascular system: altered anatomy of the heart valves; thoracodiaphragmatic syndrome caused by vertebral pathologies and pathologies of the chest (thoracodiaphragmatic heart); damage to arteries and veins, including varicose veins at a young age; arrhythmic syndrome, etc.
  • Bronchi and lungs: bronchiectasis, spontaneous pneumothorax, ventilation disorders, tracheobronchial dyskinesia, tracheobronchomalacia, etc.
  • Gastrointestinal tract: disruption (compression) of the blood flow supplying the abdominal organs with blood - dysplastic disease is treated unsuccessfully for a long time, sometimes all my life, by a gastroenterologist, while the cause of the symptoms is connective tissue dysplasia.
  • Vision: varying degrees of myopia, elongation of the eyeball, lens dislocation, blue sclera syndrome, strabismus, astigmatism, flat cornea, retinal detachment.
  • Kidneys: renovascular changes, nephroptosis.
  • Teeth: caries in early childhood, generalized periodontal disease.
  • Face: malocclusions, pronounced facial asymmetries, gothic palate, low-growing hair on the forehead and neck, large ears or “crumpled” ears, etc.
  • Immune system: allergic, autoimmune syndromes, immunodeficiency syndrome.
  • Mental sphere: increased anxiety, depression, hypochondria, neurotic disorders.

This is not a complete list of consequences, but it is typical: this is how connective tissue dysplasia manifests itself in children and adults. The list gives an idea of ​​the complexity of the problem and the need for scrupulous research to make the correct diagnosis.

Hip dysplasia

Hip dysplasia- deviation, disturbance or pathology in the development of articular structures in the pre- and postnatal periods, the result of which is an incorrect spatial-dimensional configuration of the joint (the relationship and position of the acetabulum and the femoral head). The causes of the disease are varied, and may also be due to genetic factors, such as connective tissue dysplasia.

In medicine, it is customary to distinguish three forms of development of DTS - preluxation (or the stage of an immature joint), subluxation (the stage of initial morphological changes in the joint) and dislocation (pronounced morphological changes in the structure).

The joint at the pre-luxation stage has a stretched, weak capsule, and the femoral head dislocates freely and returns to its place (slipping syndrome). Such a joint is considered immature - formed correctly, but not secured. The prognosis for children with this diagnosis is most positive if the defect is noticed in time, and therapeutic intervention begins on time and is carried out effectively.

A joint with subluxation has a displaced femoral head: its displacement in relation to the acetabulum can occur to the side or upward. In this case, the general position of the cavity and the head is preserved, the latter does not violate the limits of the limbus - the cartilaginous plate of the cavity. Competent and timely therapy implies a high probability of the formation of a healthy, full-fledged joint.

The joint in the dislocation stage is, in all respects, a displaced femoral head, the contact between it and the socket is completely lost. This pathology can be either congenital or the result of improper/ineffective treatment of earlier stages of dysplasia.

External signs for making a preliminary diagnosis of DTS in infants:

  • quantitative limitation in hip abduction;
  • shortened thigh - with the same position of the legs, bent at the knees and hip joints, the knee on the affected side is located lower;
  • asymmetry of the buttock, under the knees and inguinal folds on the child’s legs;
  • Marx-Ortolani symptom (also called the clicking or sliding symptom).

If an external examination gives positive results for diagnosing DTS, then an accurate diagnosis is made based on the results of ultrasound and x-ray examination (after 3 months).

Confirmed dysplasia of the hip joints is treated, depending on the general form and secondary features, with the help of Pavlik stirrups, plaster garters, other functional devices and physiotherapy, in case of severe pathologies - with surgical methods.

Connective tissue dysplasia in children

Connective tissue dysplasia in children can “declare” itself at any age of the child. Often, clinical signs become more distinct as they grow older (“the effect of developing a negative photograph”), and therefore an accurate determination of the disease in childhood and adolescence is difficult: such children are simply more likely than others to end up with problems from one specialist, then to another.

If a child is diagnosed with connective tissue dysplasia, and it is authoritatively confirmed, then do not despair - there are many methods of supportive, corrective and restorative therapy. In 2009, for the first time in Russia, a basic drug program for the rehabilitation of patients with CTD was defined.

In addition, dysplastic patients have their own proven advantages over relatively healthy people. As Professor Alexander Vasiliev says, most people with dysplasia have a higher (relative to average) level of intelligence - many successful people suffered from DST. Very often, patients with dysplasia look more attractive than the “main population” due to their elongated limbs and general sophistication of appearance. In 90% of cases, they are outwardly younger than their biological age. There is another important advantage of dysplastics, confirmed by domestic and foreign observations: patients with DST are on average 2 times less likely to be exposed to cancer.

When should parents be vigilant and begin a comprehensive examination of their child in reputable clinics? If you notice at least 3–5 of the above list of pathologies and conditions in your child, you should contact a specialist. There is no need to draw conclusions on your own: even the presence of several matches does not mean a diagnosis of DST. Doctors must establish that they are all a consequence of one cause and are interconnected by connective tissue pathology.



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