Connective tissue dysplasia: symptoms and treatment in children

Dysplasia of connective tissue - manifestations in a child or adult, diagnosis and therapy

There are such internal disorders that lead to the emergence of a whole bouquet of diseases in different areas - from joint diseases to problems with the intestines, and connective tissue dysplasia is their brightest an example.

It is not possible for every doctor to diagnose it, since it is expressed in each case by its own set symptoms, so a person can for years unsuccessfully treat himself, not suspecting what is happening inside him.

Is this diagnosis dangerous and what steps need to be taken?

What is connective tissue dysplasia?

In a general sense, the Greek word "dysplasia" means a disruption in education or development that can be applied to both tissues and internal organs in general.

This problem is always congenital, as it appears in the intrauterine period.

In the official medicine, the pathology of the development of connective tissue can also occur under the names:

• hereditary collagenopathy;
• hypermobile syndrome.

The number of signs of connective tissue disorders is so great that alone they can be associated with any diseases: pathology is reflected in most of the internal systems - from the nervous to the cardiovascular and even expressed as an unreasonable decrease body weight. Often dysplasia of this type is detected only after external changes, or diagnostic measures taken by a doctor with others. purpose.

Among the most striking and detectable with high frequency signs of connective tissue disorders are:

• Vegetative dysfunction, which can manifest itself as panic attacks, tachycardia, fainting, depressions, nervous exhaustion.
• Problems with the heart valve, including prolapse, heart abnormalities, heart failure, myocardial pathology.
• Asthenization is the inability of the patient to expose himself to constant physical and mental stress, frequent psycho-emotional disruptions.
• X-shaped deformation of the legs.
• Varicose veins, spider veins.
• Hypermobility of the joints.
• Hyperventilation syndrome.
• Frequent bloating caused by digestive disorders, dysfunction of the pancreas, problems with the production of bile.
• Soreness when trying to pull the skin.
• Problems with the immune system, eyesight.
• Mesenchymal dystrophy.
• Anomalies in the development of the jaw (including bite).
• Flat feet, frequent dislocation of joints.

Doctors believe that people who have connective tissue dysplasia, in 80% of cases have psychological disorders.

An easy form is depression, a constant sense of anxiety, low self-esteem, lack of ambition, discontent with the current state of affairs, reinforced by the reluctance to change anything.

However, even a diagnosis of "connective tissue dysplasia syndrome" may even be associated with autism.

At birth, a child may be deprived of phenotypic signs of connective tissue pathology, even if it is collagenopathy, which has vivid clinical manifestations.

In the postnatal period, defects in the development of connective tissue are also not excluded, so a newborn is rarely diagnosed with this diagnosis.

The situation is complicated by the natural condition of children under 5 years of connective tissue, in view of which they have too much stretches the skin, easily injured ligaments, hypermobility is observed joints.

In children older than 5 years with suspicions of dysplasia can be seen:

• changes in the spine (kyphosis / scoliosis);
• deformities of the chest;
• poor muscle tone;
• asymmetrical blades;
• malocclusion;
• fragility of bone tissue;
• increased flexibility of the lumbar region.

Causes

The basis of changes in connective tissue is genetic mutations, therefore its dysplasia can not be recognized in all its forms as a disease: some of its manifestations do not worsen the quality of human life.

Dysplastic syndrome causes changes in the genes that are responsible for the main protein that forms the connective tissue - collagen (less often - fibrillin). If there is a failure during the formation of its fibers, they will not be able to withstand the load.

In addition, as a factor in the appearance of such dysplasia, magnesium deficiency is not excluded.

Classification

Doctors to date have not come to a consensus on the classification of connective tissue dysplasia: it can be break into groups about the processes that occur with collagen, but this approach allows you to work only with hereditary dysplasia. The following classification is considered more universal:

• Differential disorder of connective tissue, which has an alternative name - collagenopathy. Dysplasia is hereditary, the symptoms are clear, the diagnosis of the disease of labor is not.
• Undifferentiated disorder of connective tissue - this group includes the remaining cases, which can not be attributed to differentiated dysplasia. The frequency of her diagnosis is several times higher, and in people of all ages. A person who has found undifferentiated pathology of connective tissue often does not need treatment, but must be under the supervision of a doctor.

Diagnostics

With dysplasia of this kind, a lot of controversial issues are connected, since in the issue of diagnostics specialists practice several scientific approaches.

The only point that does not cause doubts is the need to conduct clinical genealogy studies, as the defects of connective tissue are congenital in nature.

In addition to clarifying the picture, the doctor will need:

• systematize the patient's complaints;
• to carry out a measurement of a trunk on segments (for connective tissue dysplasia the actual length is actual);
• assess mobility of joints;
• Give the patient to try to cover his wrist with his thumb and little finger;
• to conduct an echocardiogram.

Analyzes

Laboratory diagnosis of this type of dysplasia consists in the study of urine analysis on the level of hydroxyproline and glycosaminoglycans - substances that appear in the process of collagen degradation.

In addition, it makes sense to check blood for frequent mutations in PLOD and general biochemistry (detailed analysis from the vein), metabolic processes in connective tissue, markers of hormonal and mineral metabolism.

Which doctor treats connective tissue dysplasia?

The pediatrician deals with the diagnosis and the development of therapy (entry-level) in children, since there is no doctor who works exclusively with dysplasia.

After the scheme is the same for people of all ages: if there are several manifestations of the pathology of connective tissue, it will be necessary to take a treatment plan from a cardiologist, gastroenterologist, therapist, etc.

Treatment of connective tissue dysplasia

There is no way to get rid of this diagnosis, since dysplasia of this type affects changes in genes, however complex measures can alleviate a patient's condition if he suffers from clinical manifestations of the pathology of the connective tissue. Advantageously, the prevention of exacerbation is practiced, which consists of:

• competently matched physical activity;
• individual diet;
• physiotherapy;
• drug treatment;
• psychiatric care.

To surgical intervention for this type of dysplasia is recommended to resort only in the case deformities of the chest, serious disorders of the spine (especially sacral, lumbar and cervical departments).

Syndrome connective tissue dysplasia in children requires an additional normalize the regime of the day, pick up constant physical activity - swimming, biking, skiing.

However, in the professional sport of a child with such dysplasia should not be given.

Without the use of drugs

Start treatment doctors advise with the exclusion of high physical exertion, hard work, including mental. Every year the patient needs to undergo a course of exercise therapy, if possible, after receiving a plan from the specialist, and performing the same actions independently at home.

In addition, you will need to visit the hospital to undergo a complex of physiotherapy procedures: ultraviolet irradiation, rubbing, electrophoresis. The appointment of a corset supporting the neck is not excluded.

Depending on the psychoemotional state, a visit to the psychotherapist can be prescribed.

For children with dysplasia of this type, the doctor prescribes:

• Massage of the limbs and back with an emphasis on the cervical section. The procedure is held once every six months, for 15 sessions.
• Wearing of the arch support if a valgus foot is diagnosed.

Diet

The emphasis in nutrition of the patient, who was diagnosed with the pathology of connective tissue, experts recommend doing on protein foods, but this does not mean the complete exclusion of carbohydrates.

The daily menu for dysplasia must necessarily consist of lean fish, seafood, legumes, cottage cheese and hard cheese, supplemented with vegetables, unsweetened fruits. In a small amount in daily nutrition you need to use nuts.

If necessary, a vitamin complex can be prescribed, especially for children.

Medication administration

Drinking medicines should be under the supervision of a doctor, since there is no universal tablet for dysplasia and to anticipate the reaction of a specific organism even to the safest medication. In therapy to improve the condition of connective tissue during its dysplasia may include:

• Substances that stimulate the natural production of collagen - ascorbic acid, B-group vitamins and magnesium sources (Magnerot).
• Medications that normalize the level of free amino acids in the blood - Glutamic acid, Glycine.
• Means that help mineral metabolism - Alfacalcidol, Osteogenon.
• Preparations for the catabolism of glycosaminoglycans, mainly on chondroitin sulfate - Rumalon, Chondroxide.

Surgical intervention

In view of the fact that this pathology of connective tissue is not considered a disease, the doctor will give a recommendation for the operation, if the patient suffers from a deformity of the musculoskeletal system, or dysplasia can lead to a fatal outcome due to problems with vessels. In children, surgical intervention is less common than in adults, doctors try to avoid manual therapy.

A source: http://sovets.net/12734-displaziya-soedinitelnoj-tkani.html

Children with connective tissue dysplasia: many problems and one key to them. Part 1

Children's health Children with connective tissue dysplasia: many problems and one key to them. Part 1.

Among the small pediatric patients there is a special group of children.

These are not children with any serious illnesses that violate mental and physical development, not children who are constantly fever and sick, not allergic children, whose constant companion are dermatitis - ate something wrong, running to to the doctor.

Nevertheless, these children visit the pediatrician - and not only him - at least, and their card is full of records different specialists and already often differs in the special thickness of "personal business" even in the early childhood age.

As often happens: a child is born, happy parents undergo all established examinations of specialists, and each of them finds the child some problems in its profile, sometimes even later than they are able to notice attentive mother with father. Very often, the recommendations - and not without reason - boil down to observation: the hypersensitive pancreas and frequent regurgitation - will outgrow, a slight vesicoureteral reflux - watch and do not overcool, valgus feet - wear preventive insoles, everything should bounce back to school, reduced muscle tone - so massage more often do it.

Meanwhile time is passing, but there is no positive dynamics: the child does not outgrow the problems, on the contrary, they are aggravated with age. Each specialist clearly sees his pathology, but can not with certainty judge its cause. Meanwhile, very often the complex problem is, and the reason is there.

Today we will talk specifically about these special children and their problem - the problemconnective tissue dysplasia.

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In the domestic literature, it is described little, although some Russian schools (Moscow, St. Petersburg, Omsk), have been studying it for a long time and in detail.

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Moreover, separate surveys of organized groups of schoolchildren from Russian cities (a sample of about 1000 people) show that manifestations of dysplasia of connective tissue, of varying degrees of severity, are observed in almost 50% of children!

The fact is that connective tissue dysplasia is not an isolated disease, but a complex of symptoms caused by a single cause: a genetic quantitative and / or qualitative defect in the synthesis of proteins that form the extracellular matrix (collagen, fibrillin). As a result, a child with a defective connective tissue is born. A connective tissue - the cement of the intercellular space in the body.

From the course of anatomy it is known that it seems to fill the void in the body.

This is the only of all tissues that has an intercellular substance produced by the cells themselves, with a very complex composition - nature has provided in it everything: polysaccharides, proteins, collagen and elastic fibers, mineral substance.

We will not touch upon the problems associated with the so-called differentiated connective tissue dysplasias, which are very serious diseases leading to serious and irreversible changes in internal organs, and sometimes, in particularly severe cases, resulting in lethal. There are relatively few such children, and since the problem is "localized" in certain organs to the systems of the body (for example, the aorta, eyes,Marfan syndrome, skin and joints with Ehlers-Danlo syndrome), the diagnosis is made relatively quickly.

The object of our attention will be the children with the so-calledundifferentiated connective tissue dysplasia(hereinafter the VAT).

Undifferentiated - because in this case the connective tissue, regardless of its localization, everywhere, throughout the body, carries a hidden defect.

As a result, the disease becomes multiorgan, i.e. affecting a variety of organs.

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There are so many such defeats and they are so diverse that it is often difficult for a doctor to tie them together and see a systemic disorder behind a group of individual symptoms.

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Yes, and the possibilities of genetic diagnosis of NDTs are quite limited around the world, not to mention in Ukraine - if the severe forms of dysplasia, mentioned above, it is possible to diagnose the genetics with an experienced eye and somehow as a laboratory, then we can not talk about the possibility of laboratory confirmation of the diagnosis of NDT in our country it is necessary ...

What should alert the parent of a child who has a huge list of various pathologies from different specialists? How can you suspect the child of NDT?

Since the manifestations of NDTT are many and they are extremely diverse, they are classified as external and visceral (associated with changes in internal organs) signs. You should be alerted if your child has a combination of at least 3-5 following signs of involvement in the process of different organs and systems.

Diagnosis can be made by specialized specialists,and sometimes are a random finding:

1. The bone system (as the orthopedist notes):

• deformation of the chest (keel or funnel-shaped);
• kifo, coliosis, spondylolisthesis;
• dysplasia of the hip joints;
• brittle bones;
• hypermobility of joints, frequent dislocations and subluxations;
• disproportionality of the trunk segments;
• pronounced deformations of the joints, spine;
• umbilical hernia (often these babies are born with an abnormally widened umbilical ring);
• X-and O-shaped curvature of legs;
• valgus deformation of the feet or knees;
• longitudinal or transverse flatfoot;
• clubfoot.

2. Muscular system (as noted by a neurologist):

• pronounced hypotension (decreased tone) of the muscles of the upper and / or lower extremities, often persistent even with intense exposure and rehabilitation;
• tendency to stretching, tearing and tearing of ligaments and tendons;
• increased fatigue, sleep disturbance;
• frequent pain in the heart, dizziness, headache;
• frequent pain in the back and joints (cervicalgia, thoracalgia, lumbulgia, polyarthralgia);
• arterial hypotension.

3. Eyes (as the oculist notes):

• myopia (myopia) of medium or high degree;
• astigmatism;
• anomalies of the development of the fundus, sclera and cornea;
• an increase in the long axis of the eyeball (if you were doing ultrasound);
• subluxation of the lens;

4. Teeth and maxillofacial anomalies of development (as noted by the dentist and orthodontist):

• incorrect and / or untimely growth of teeth;
• hypoplasia of the enamel of the teeth;
• short frenum of the tongue;
• changes in the size of the lower jaw;
• "Gothic sky
• early periodontitis and frequent gingivitis (inflammation of the gums).

5. Cardiovascular system (as noted by a cardiologist):

• prolapse of the mitral valve (PMC) (special attention should be paid if a miksomatoznoe change in the valves is observed with PMC - an organic disorder consisting in the change in valve flaps, which can lead to serious disturbances in the work of the heart) (according to ultrasound);

• Expansion of the ascending aorta or bicuspid aortic valve (according to ultrasound data);

• other small heart anomalies: tricuspid and aortic valve prolapses, small atrial aneurysm, marked asymmetry of tricuspid aortic valve, multiple false chords and abnormal left ventricular trabeculae, additional chords in the heart cavity, open oval window (according to data Ultrasound);

• propensity to arrhythmias and syncopal conditions (fainting);

• causeless tachycardia (rapidity of pulse more than 60 beats / min) at rest or arising suddenly;

• varicose veins already in adolescence.

6. Bronchopulmonary system (as noted by the pulmonologist):

• polycystic pulmonary disease;
• propensity to frequent bronchitis and pneumonia (as well as ENT diseases);
• tracheobronchomalacia;
• tracheobronchomegaly;
• hyperventilation syndrome;
• acute respiratory syndromes up to the collapse of the trachea and large bronchi.

7. Gastrointestinal tract (which is noted by the gastroenterologist):

• failure of the cardia of the stomach;

• hiatal hernia and diaphragm;

• diverticula of the esophagus and various parts of the intestine;

• anomalies in the shape and location of the stomach, duodenum and gallbladder (according to ultrasound);

• gastroesophageal and / or duodenogastric reflux;

• ptosis (descent) of the abdominal cavity organs;

• persistent dyspeptic disorders.

8. Kidney and urino-genital system (as noted by the nephrologist, urologist):

• polycystic kidney disease;
• pulmonary-renal and / or vesicoureteral reflux;
• ptosis of the kidneys and / or bladder;
• varicocele (dilated veins of the spermatic cord) in boys.

9. General external and visceral signs (as noted by the pediatrician):

• the tendency to form bruises, increased bleeding of blood vessels (sometimes the vessels are directly translucent under the skin), a tendency to nasal and rectal bleeding;
• hyperextension of the skin, thin and velvety skin;
• the tendency to the appearance of stretch marks (striae), especially during periods of intense growth and puberty;
• tendency to the appearance of gross scars at the site of injuries;
• often characteristic appearance: protruding or large ears, deep set eyes, unusual shape of the skull, protruding clavicles / scapula;
• the so-called "asthenic type" of addition: hypotrophy (underweight) in infancy, increased leanness in adolescence (body mass index (BMI) less than 17) - despite the fact that the appetite of such children is often elevated, thin and light bones, increased fatigue, lethargy overall weakness, difficulty concentrating and concentration of attention (while the child can be hyperactive), decreased performance, bad sleep, etc.

Vilchinskaya Tatiana

Children with connective tissue dysplasia: many problems and one key to them. Part 2.

Memo for patients with dysplasia of connective tissue of children and their parents

Age dynamics, the clinical significance of manifestations of connective tissue dysplasia in children of school age and adolescents, the possibility of correction. Part 1.

A source: http://www.likar.info/kids-health/article-42900-deti-s-displaziej-soedinitelnoj-tkani-mnogo-problem-i-odin-klyuch-k-nimchast-1/

Dysplasia in children: causes, signs, treatment, prognosis for the future

Dysplasia in children - a violation of the formation of connective tissue, which is a component of muscles, cartilage, bones, ligaments.

Violation can occur in any organ or system.

In newborns, dysplasia of the hip joint is most often diagnosed, which is fraught with subluxation and dislocation of the head of the femur.

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Practically all children under 5 years old have signs of pathology - tender, easily extensible skin, weak ligaments, etc. Diagnosis of the disorder in such small patients can only indirectly or by external symptoms.

Causes of pathology development:

• Heredity;
• Risk of miscarriage;
• Infections, endocrine disorders during pregnancy;
• Incorrect presentation of the fetus;
• Severe gestosis;
• Rapid birth;
• Late pregnancy;
• Avitaminosis, poor nutrition during pregnancy.

Hip dysplasia is classified into several types:

• Acetabular. Occurs in the pathology of the acetabulum;
• Meyer's dysplasia is localized in children in the proximal part of the thigh. The neck-diaphyseal angle changes more or less;
• Rotational - the position of bones in the horizontal plane is disrupted.

Pathology has three degrees of severity: prelivor, subluxation and dislocation.

At once it is necessary to say that such a diagnosis is not a disease at all. This is more a feature of the body. Children with this phenomenon are many and far from all of them are observed in pediatricians, orthopedists and other specialists.

There are already many signs of DST. They are divided into external and internal. The first is easy to detect with external examination, the latter - during the diagnosis (analyzes, studies).

Outside signs are common:

• Hypermobility of the joints;
• Increased skin extensibility;
• Deformation of the spinal column (scoliosis, kyphosis);
• Flat-footed;
• Severe venous network;
• Ploskovalgusnaya deformation of feet;
• Pathology of vision;
• Chest deformation (funnel-shaped, keel-shaped, with slight indentation);
• Asymmetry of the blades;
• Hunched shoulders;
• Nasal bleeding;
• The tendency to bruising;
• Weakness of abdominal muscles;
• Asymmetry or curvature of the nasal septum;
• Muscular hypotension;
• "Hollow" foot;
• Hernias;
• Superfine teeth or their abnormal growth.

Sick children in 5-7 years, as a rule, complain a lot about malaise, weakness, do not tolerate physical activity, they have a bad appetite, pain in the limbs, heart, head, abdomen can occur.

Disturbances from the internal organs become noticeable at a later age. DST is characterized by the omission of organs (stomach, kidneys); heart murmur, mitral valve prolapse; reflux disease, biliary dyskinesia, constipation; varicose veins, etc.

Hemorrhagic syndrome manifests itself in the form of bruises, even in the lightest injuries, as well as nosebleeds.

Deviations in the work of the nervous system are expressed by syncope, autonomic dystonia, hyperexcitability syndrome, etc.

Separately, we should mention this form of the disease, as it was provoked by the apparatus of artificial ventilation.

This type of pathology can occur in children under one year old, who have been connected to the ventilator for a long time (more than a week).

It is worth noting that most often it occurs in preterm infants.

To prevent this situation, the doctor connects the ventilator only for life indications and for the shortest possible time.

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The main symptom of the pathology is acute respiratory failure, which appears when trying to remove the ventilator.

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Sometimes heart failure occurs.

There is also cyanosis of the skin (cyanosis), irregular, fasted or shortness of breath, episodes of stopping it (apnea), signs of bloating.

The causes of the appearance of pathology: toxic effects of oxygen; barotrauma of the lungs; infection; respiratory disorders; edema light; hypovitaminosis A or E; immaturity of the lung in a premature infants; pulmonary hypertension; hereditary predisposition.

Treatment involves a gradual excommunication from the device of artificial ventilation. To restore the affected organ, good nutrition is necessary. Since inflammation in the lung can accumulate fluid, drink a little restrict, and also prescribe diuretics.

When aplastic dysplasia of the kidneys death occurs after a few days, if the child is not transplanted a new kidney. When hypoplastic occurs chronic renal failure.

Symptoms: pain in the lower abdomen; convulsions; headache; increase in blood pressure. The kid lags behind in development in comparison with contemporaries.

Renal dysplasia can be triggered by taking medication during pregnancy, smoking, drinking alcohol and drugs. It can also be inherited.

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In a child with renal dysplasia, pathologies of other organs and systems may develop with time. If you do not help a healthy kidney, it will stop functioning normally, and kidney failure will occur.

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A child with a urinary syndrome is prescribed a special diet so that the disease does not develop into kidney failure. In addition, the baby should be limited in active movements, especially in jumping.

Symptoms of the disease when the recommendations of specialists disappear by the age of 5.

However, children should be registered, come to regular checkups and measure blood pressure.

If the baby has serious problems with urination, the doctor prescribes either organ transplantation or dialysis - blood purification.

Depending on the deviation, the doctor chooses the method of treatment.

It is necessary to consult not only the pediatrician, but also the specialist of the profile, problems with which are found in the child, for example, in gastrointestinal abnormalities it is necessary to consult a gastroenterologist with a locomotor apparatus - orthopedist.

If there are no contraindications to sports, it is desirable that the child does it, but in no case is not professional.

Otherwise, excessive physical exertion will lead to an early appearance of degenerative-dystrophic changes in the cartilage and ligaments.

This condition leads to chronic aseptic inflammation.

It is better to give preference to therapeutic swimming, bicycling, skiing, badminton, wushu gymnastics.

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An important component of rehabilitation is therapeutic massage. Treatment is subject to back, cervical-collar zone, limbs. The course is usually 15-20 sessions.

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Ploskovalgusnaya setting stops requires constant wearing of insteps.

That the baby does not have problems with the legs, the choice of shoes are very responsible.

It should sit tightly on the foot, fix the foot and ankle, have a minimum of stitches inside and be made of natural materials.

Parents should daily engage with the baby gymnastics, do foot massage, foot baths with the addition of various herbs and sea salt (15 minutes).

It is recommended to eat more meat, fish, nuts and beans. Sour-milk products are necessary.

In addition, the food should be saturated with the necessary growing body vitamins and trace elements.

A source: http://mjusli.ru/ja_mama/zdorove_malyshej/displaziya-u-detej-prichiny-priznaki-lechenie-prognoz-na-budushhee

Connective tissue dysplasia - symptoms, treatment, forms, stages, diagnosis

Dysplasia (from other Greek. δυσ - "violation" and πλάθω - "form") - a violation of the development of tissue, organ, organ system.

Under the dysplasia of connective tissue is understood such a genetically determined abnormality of tissue development, which is changed the ratio of collagen fractions (or their insufficiency is noted), defects of both fibrous structures and substance. The result is multiple dysfunctions at all levels of the organization: from the cellular to the organism.

Source: gidmed.com

The connective tissue consists of intercellular substance, inclusions of various cells and proteins (collagen and elastin).

It accounts for more than half of all body tissues; connective tissue performs cartilage, ligaments, tendon, musculoskeletal system, forming elements of internal organs, subcutaneous fat and and so forth. and is the internal environment of the body.

Because of such a wide representation, the disruption of the structure of the named type of tissue can manifest itself as a pathology of almost any organ, determining the systemic nature and extent of the lesion.

Data on the prevalence of pathology are very contradictory: according to the results of modern studies, connective tissue dysplasia is defined in 13-80% of the population.

The denoting term was proposed at the end of the 20th century by the Scottish physician R. Beiton as the name of the pathology of connective tissue, in which its strength decreases.

Despite the spread and the determining role in the development of many diseases and pathological states, connective tissue dysplasia is not recognized in the International Classification of Diseases in a separate heading.

Causes and risk factors

The causes of the disease are diverse; they can be divided into 2 main groups: hereditary and acquired.

Genetically caused disruption of the structure of connective tissue occurs due to inheritance (more often by autosomal dominant type) mutant genes responsible for coding the formation and spatial orientation of fine fibrous structures, protein-carbohydrate compounds and enzymes.

The acquired dysplasia of connective tissue is formed at the stage of fetal development and is a consequence of the influence of such factors during pregnancy:

• transferred in the first trimester of viral infections (SARS, influenza, rubella);
• severe toxicosis, gestosis;
• chronic infectious diseases of the urogenital area of ​​the future mother;
• taking certain medications during pregnancy;
• unfavorable ecological situation;
• production hazards;
• exposure to ionizing radiation.

Forms of the disease

Allocate the following forms:

1. Differential connective tissue dysplasia (hereditary), which includes about 250 pathologies (for example, syndromes of Marfan, Ehlers - Danlos, dermatolysis of Aliber, hereditary family hemorrhagic nephritis, arthroofthalmopathy).
2. Undifferentiated form, which unites a multitude of heterogeneous forms of connective tissue diseases.

Hereditary form of the disease is rare, represents a small proportion in the overall structure of dysplasia.

Stages of the disease

A number of studies indicate a staged appearance of symptoms of dysplasia in different age periods:

• in the period of newborns, the most common evidence of a pathology of connective tissue is low weight, insufficient body length, thin and long limbs, feet, hands, fingers;
• in early childhood (5-7 years), the disease manifests itself as scoliosis, flat feet, excessive volume of movements in the joints, keel or funnel-like deformation of the chest;
• in children of school age, connective tissue dysplasia is manifested by prolapse of valves, myopia (nearsightedness), dysplasia of the dentoalveolar apparatus, the peak of diagnosing the disease falls precisely on this the age period.

Symptoms

All symptoms can be conditionally divided into external manifestations and signs of lesions of internal organs (visceral).

External manifestations of connective tissue dysplasia:

• low body weight;
• tendency to increase the length of tubular bones;
• curvature of the vertebral column in various departments (scoliosis, hyperkypophysis, hyperlordosis);
• asthenic physique;
• altered shape of the chest;
• deformation of the fingers, violation of the ratio of their length, the imposition of the toes;
• symptoms of the big toe, wrist joint;
• congenital absence of the xiphoid process of the sternum;
• deformation of the lower extremities (X- or O-shaped curvatures, flat feet, club foot);
• pterygoid scapula;
• various changes in posture;
• herniation and protrusion of intervertebral discs, instability of vertebrae in various departments, displacement of the structures of the spine relative to each other;
• thinning, pallor, dryness and hyperelasticity of the skin, their increased tendency to traumatization, positive symptoms of the tourniquet, pinching, possibly the appearance of sites of atrophy;
• multiple birthmarks, telangiectasias (vascular sprouts), hypertrichosis, birthmarks, increased brittleness of hair, nails, clearly visualized vasculature;
• articular syndrome - excessive volume of movements in symmetrical (as a rule) joints, increased inclination of the joint apparatus to traumatization.

In addition to the above external manifestations, connective tissue dysplasia is characterized by small anomalies of development, or the so-called stigmata (stigma) of disembryogenesis:

• characteristic structure of the face (low forehead, pronounced superciliary arches, tendency to splice eyebrows, flattening of the back of the nose, Mongoloid a cut of the eyes, closely planted or, on the contrary, widely spaced eyes, heterochromia, strabismus, low upper eyelids, "fish mouth" Gothic sky, disruption of the structure of the dentition, bite deformity, shortening of the frenum of the tongue, deformation of the structure and arrangement of the ear shells, etc.);
• features of the structure of the trunk (divergence of the rectus abdominis muscles, umbilical hernia, low-placed navel, additional nipples are possible, etc.);
• abnormalities in the development of genital organs (hypoplasia or hypertrophy of the clitoris, labia, foreskin, scrotum, testicles, phimosis, paraphimosis).

Single small anomalies are determined in norm and in healthy children who are not carriers of the disease, therefore, a confirmation of at least six stigmas from the listed list.

Visceral symptoms of the disease:

• pathology of the cardiovascular system - prolapses or asymmetric structure of valvular valve valves, damage to vascular structures (varicose veins, aortic aneurysm), the presence of additional tendon threads (chords) of the heart, structural rearrangement of the root aorta;
• damage to the organs of vision - myopia, subluxation or flattening of the lens;
• bronchopulmonary manifestations - dyskinesia of the respiratory tract, emphysema, polycystosis;
• defeat of the digestive tract - dyskinesia, anomalies of the gallbladder and ducts, gastroesophageal and duodenal-gastric reflux;
• the pathology of the urinary system - the omission of the kidneys (nephroptosis), their uncharacteristic arrangement or complete and partial doubling;
• anomalies of the structure or displacement of internal genital organs.

Diagnostics

The basis for the correct diagnosis of connective tissue dysplasia is the careful collection of anamnestic data, a comprehensive examination of the patient:

• detection of blood and urine oxyproline and glycosaminoglycans;
• Immunological analysis for the determination in blood and urine of C- and N-terminal telopeptides;
• indirect immunofluorescence with polyclonal antibodies to fibronectin, different fractions of collagen;
• the activity of the bone isoform of alkaline phosphatase and osteocalcin in the blood serum (assessment of the intensity of osteogenesis);
• the study of histocompatibility antigens HLA;
• Ultrasound of the heart, vessels of the neck and abdominal organs;
• bronchoscopy;
• FGDs.

Treatment

Quite often manifestations of the disease are expressed slightly, are more cosmetic in nature and do not require special medication correction.

In this case, an adequate, dosed mode of physical activity, observance of the activity and rest regime, a full-fledged vitamin-rich, protein-rich diet are shown.

If necessary, drug correction (stimulation of collagen synthesis, bioenergetics of organs and tissues, normalization of the level of glycosaminoglycans and mineral metabolism), the following drugs are prescribed groups:

• vitamin and mineral complexes;
• chondroprotectors;
• stabilizers of mineral metabolism;
• preparations of amino acids;
• metabolic means.

Possible complications and consequences

Complications of connective tissue dysplasia:

• traumatization;
• a decrease in the quality of life with high organ involvement, systemic lesion;
• joining of somatic pathology.

Forecast

In most cases, the prognosis is favorable: the existing anomalies in the structure of connective tissue do not have a significant effect on the labor and social activity of patients.

from the topic of the article:

A source: http://www.neboleem.net/displazija-soedinitelnoj-tkani.php

Connective tissue dysplasia

Connective tissue dysplasia is a concept that unites various diseases caused by hereditary generalized collagenopathy and manifested by a decrease in the strength of the connective tissue of all systems organism. The population frequency of connective tissue dysplasia is 7-8%, but it is assumed that its individual characteristics and small undifferentiated forms can occur in 60-70% of the population. Connective tissue dysplasia falls in the field of vision of clinicians working in different medical fields - pediatrics, traumatology and orthopedics, rheumatology, cardiology, ophthalmology, gastroenterology, immunology, pulmonology, urology and etc.

Causes of connective tissue dysplasia

The development of connective tissue dysplasia is based on a defect in the synthesis or structure of collagen, protein-carbohydrate complexes, structural proteins, as well as the necessary enzymes and cofactors.

The immediate cause of this pathology of connective tissue are various effects on the fetus, leading to genetically determined changes in extracellular fibrillogenesis matrix.

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Such mutagenic factors include an unfavorable ecological situation, malnutrition and bad habits of the mother, stress, aggravated pregnancy, etc.

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Some researchers point to the pathogenetic role of hypomagnesemia in the development of connective tissue dysplasia, based on the detection of magnesium deficiency in the spectral study of hair, blood, oral liquid.

Synthesis of collagen in the body is encoded by more than 40 genes, for which over , 00 species of mutations have been described. This causes a variety of clinical manifestations of connective tissue dysplasias and complicates their diagnosis.

Connective tissue dysplasia is divided into differentiated and undifferentiated.

Among the differentiated dysplasias are diseases with a certain, established type of inheritance, a clear clinical picture, known genetic defects and biochemical disorders.

In terms of severity, the following types of connective tissue dysplasia are distinguished: small (in the presence of 3 or more phenotypic signs), isolated (with localization in one organ) and inherently inherited diseases connective tissue. Depending on the prevailing dysplastic stigma, 10 phenotypic variants of connective tissue dysplasia are distinguished:

1. Marfanopodic appearance (includes 4 or more phenotypic signs of skeletal dysplasia).
2. Marphanopod phenotype (incomplete set of signs of Marfan syndrome).
3. MASS phenotype (includes damage to the aorta, mitral valve, skeleton and skin).
4. Primary prolapse of the mitral valve (characterized by echocardiographic signs of mitral prolapse, changes in the skin, skeleton, joints).
5. A classic aners-like phenotype (incomplete set of signs of the Ehlers-Danlos syndrome).
6. Hypermobility anersopodobny phenotype (characterized by hypermobility of joints and concomitant complications - subluxations, dislocations, sprains, flat feet; arthralgia, bone involvement and skeleton).
7. Hypermobility of joints is benign (includes increased volume of movements in the joints without the interest of the skeletal system and arthralgia).
8. Undifferentiated connective tissue dysplasia (includes 6 or more dysplastic stigmas, which, however, is not enough to diagnose differentiated syndromes).
9. Increased dysplastic stigmatization with predominant osteoarticular and skeletal features.
10. Increased dysplastic stigmatization with predominant visceral traits (small anomalies of the heart or other internal organs).

Since the description of differentiated forms of connective tissue dysplasia is given in detail in the relevant independent reviews, in the following we will talk about its undifferentiated variants.

In the case where the localization of connective tissue dysplasia is limited to one organ or system, it is isolated.

If connective tissue dysplasia manifests itself phenotypically and captures at least one of the internal organs, this condition is considered as a syndrome of connective tissue dysplasia.

External (phenotypic) signs of connective tissue dysplasia are represented by constitutional features, anomalies in the development of bones of the skeleton, skin, etc. Patients with connective tissue dysplasia have an asthenic constitution: high growth, narrow shoulders, and lack of body weight.

Disturbances in the development of the axial skeleton can be represented by scoliosis, kyphosis, funnel-shaped or keel-like deformations of the chest, juvenile osteochondrosis.

Craniocephalic stigmata connective tissue dysplasia often include dolichocephaly, malocclusion, dental abnormalities, Gothic palate, non-affection of the upper lip and palate.

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The pathology of the osteoarticular system is characterized by O-shaped or X-shaped limb deformation, syndactyly, arachnodactyly, hypermobility of joints, flat feet, a tendency to habitual dislocations and subluxations, fractures bones.

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From the side of the skin there is increased elongation (hyperelasticity) or, on the contrary, fragility and dryness of the skin.

Often on it for no apparent reason appear striae, pigment spots or foci of depigmentation, vascular defects (telangiectasia, hemangiomas).

The weakness of the muscular system with connective tissue dysplasia causes a tendency to omission and prolapse of internal organs, hernia, muscle krivoshe.

Visceral lesions occur with the interest of the central nervous system and the autonomic nervous system, various internal organs.

Neurological disorders associated with connective tissue dysplasia are characterized by vegetative-vascular dystonia, asthenia, enuresis, chronic migraine, speech impairment, high anxiety and emotional the instability.

Syndrome of connective tissue dysplasia of the heart can include mitral valve prolapse, an open oval window, hypoplasia of the aorta and pulmonary trunk, lengthening and excess mobility of chords, aneurysms of the coronary arteries or interatrial partitions. The consequence of the weakness of the walls of venous vessels is the development of varicose veins of the lower limbs and small pelvis, hemorrhoids, varicocele. Patients with connective tissue dysplasia tend to develop arterial hypotension, arrhythmias, atrioventricular and intraventricular blockades, cardialgias, sudden death.

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Cardiac manifestations are often accompanied by bronchopulmonary syndrome, characterized by the presence of cystic lung hypoplasia, bronchiectasis, bullous emphysema, repeated spontaneous pneumothorax.

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The gastrointestinal lesion is characterized by the omission of the internal organs, esophageal diverticula, gastroesophageal reflux, and hernia of the esophageal aperture of the diaphragm.

Typical manifestations of the pathology of the organ of vision in connective tissue dysplasia are short-sightedness, astigmatism, hyperopia, nystagmus, strabismus, dislocation and subluxation of the lens.

From the side of the urinary system, nephroptosis, urinary incontinence, renal anomalies (hypoplasia, doubling, horseshoe-shaped kidney), etc., can occur.

Persons with signs of connective tissue dysplasia are prone to frequent ARVI, allergic reactions, hemorrhagic syndrome.

Diagnosis of connective tissue dysplasia

Diseases from the group of connective tissue dysplasia are not always diagnosed correctly and in a timely manner.

Often patients with these or other signs of dysplasia are observed in doctors of different specialties: traumatologists, neurologists, cardiologists, pulmonologists, nephrologists, gastroenterologists, ophthalmologists and other

Recognition of undifferentiated forms of connective tissue dysplasia is complicated by the absence of unified diagnostic algorithms. The greatest diagnostic significance is the identification of a combination of phenotypic and visceral traits.

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In order to detect the latter, ultrasound (EchoCG, ultrasound of the kidneys, ultrasound of the abdominal cavity organs) is widely used; endoscopic (FGDS), electrophysiological (ECG, EEG), roentgenologic (radiography of the lungs, joints, spine and etc.) methods.

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Identification of characteristic polyorganism disorders, mainly from the musculoskeletal, nervous and cardiovascular systems with a high degree of probability indicates the presence of connective tissue dysplasia.

In addition, biochemical blood counts, hemostasis system, immune status are studied, skin biopsy is performed.

As a method of screening-diagnostics of connective tissue dysplasia, it was suggested to conduct a study of papillary drawing of the skin of the anterior abdominal wall: revealing the unformed type of papillary pattern serves as a marker of dysplastic violations. In families where there are cases of connective tissue dysplasia, it is recommended to undergo medical genetic counseling.

Treatment and prognosis of connective tissue dysplasia

Specific treatment of connective tissue dysplasia does not exist.

Patients are advised to adhere to a rational regime of the day and nutrition, health-improving physical activities.

With the purpose of activating the compensatory-adaptive capabilities, courses of exercise therapy, massage, balneotherapy, physiotherapy, acupuncture, osteopathy are prescribed.

In the complex of medical measures, along with syndromic medicamental therapy, metabolic drugs (L-carnitine, coenzyme Q10), preparations of calcium and magnesium, chondroprotectors, vitamin and mineral complexes, antioxidant and immunomodulating agents, herbal medicine, psychotherapy.

In patients with polysystemic lesion, the risk of early and severe disability, premature death, the causes of which ventricular fibrillation, PE, aortic aneurysm rupture, hemorrhagic stroke, severe internal bleeding, and other

A source: http://www.krasotaimedicina.ru/diseases/rheumatology/connective-tissue-dysplasia