Connective tissue dysplasia in children and adults: signs, symptoms and treatment

Connective tissue Dysplasia — it is a disease that affects the musculoskeletal system and internal organs. It occurs with equal frequency in adults and children. Clinical manifestations of this pathology is accompanied by symptoms, characteristic for several other common diseases, that the diagnosis is misleading even experienced professionals.

Treatment of connective tissue dysplasia should begin as soon as possible after the detection of pathology. Only way to avoid disability and live a full life that it is impossible for every tenth patient with advanced form of this disease.

What causes pathology

For the First time confronted with this diagnosis, most patients did not understand what was going on. In fact, the connective tissue dysplasia-a disease that manifests with symptoms and triggered by a number of reasons. In predominant number of cases, the disease is transmitted genetically from relatives in the direct ascending line, arising due to breakdown of natural processes of collagen synthesis. When dysplasia affects almost all the organs and musculoskeletal system.

Impairments of structural elements of connective tissue inevitably lead to many changes. First symptoms from the musculoskeletal system – the elements of connective tissue there are the most numerous. As you know, in the structure of this material contains fibers, cells and intercellular substance, their ratio depends on its density. Throughout the body connective tissue characterized by looseness, firmness and elasticity. In the formation of skin, bone, cartilage, vascular wall, the main role belongs to the collagen fibers prevalent in connective tissue and its supporting form. You cannot ignore the importance of elastin-the substance provides the contraction and relaxation of muscles.

Connective tissue Dysplasia develops because of mutations in the genes responsible for the natural processes of synthesis. Modifications can be very diverse, affecting any links of the DNA chain. In the end, the structure of connective tissue, consisting mainly of elastin and collagen is formed incorrectly, and structures formed with irregularities, can not withstand even average mechanical stress, stretch and weaken.

Differentiated varieties of the disease

Pathology affecting the connective tissue of internal organs, joints and bones, divided into differentiated and undifferentiated forms of dysplasia. The former implies an illness that has specific symptoms and appears well-studied genetic or biochemical defects. Disease such physicians outlined the General term “collagenopathy”. In the specified category includes the following pathological conditions:

• Marfan Syndrome. Patients with this disease usually tall, have long arms and legs, curved spine. Violations can happen with organs of sight until the retinal detachment and lens subluxation. In children, connective tissue dysplasia causes the development of cardiac insufficiency on the background of mitral valve prolapse.
• The Syndrome of flaccid skin. This disease is rarer than the previous. Its specificity lies in the excessive stretching of the epidermis. In this type of collagenoses it affects elastin fibers. Pathology usually is hereditary.
• The Syndrome of Ehlers-Danlos. Complex genetic disease, manifested by marked laxity of the joints. This connective tissue dysplasia in adults leads to increased vulnerability of the skin and formation of atrophic scars.
• Osteogenesis imperfecta. This is a complex genetically determined pathologies, developing because of impaired formation of bone tissue. Because struck dysplasia dramatically reduced its density, which inevitably leads to fractures of the extremities, spine, and joints, and children's age – to slow growth, curvature of posture, a characteristic disabling deformities. Often lose bone tissue in a patient appear problems in the Central nervous system, cardiovascular, excretory and respiratory systems.

Undifferentiated form

For diagnosing this type of dysplasia is enough to none of the symptoms and complaints of the patient were not differentiated collagenopathy. In children dysplasia of the connective tissue this type is found in 80% of cases. At risk of the disease, in addition to kids, are young people under the age of 35 years.

What changes occur in the body

To Suspect a connective tissue dysplasia is possible in a number of ways. Patients with this diagnosis notice itself, increased joint mobility and elasticity of the skin – this is the main symptom of the disease, which is typical for all forms of collagenoses and undifferentiated forms of the disease. In addition to these manifestations, the clinical picture can be extended with other connective tissue disorders,

• Skeletal deformities;
• Malocclusion;
• Feet;
• Vascular mesh.

For more rare symptoms include abnormalities of the structure of the auricles, brittle teeth, the formation of hernias. In severe disease develop changes in the tissues of internal organs. Connective tissue dysplasia of heart, respiratory and abdominal cavity in most cases precedes the development of vegetative dystonia. Most often, the dysfunction of vegetative nervous system is observed at an early age.

Signs of connective tissue dysplasia gaining intensity gradually. At birth, children may be absent altogether phenotypic characteristics. However, it is mainly of undifferentiated connective tissue dysplasia. With age, the disease aktiviziruyutsya, and the rate of progression depends largely on the environmental situation of the region of residence, nutrition, chronic diseases, stress, degree of immune protection.

Symptoms

Dysplastic changes occurring in the connective tissues of the body, have little or no apparent external signs. Largely clinical manifestations similar to the symptoms of various diseases encountered in Pediatrics, gastroenterology, orthopedics, ophthalmology, rheumatology, pulmonology. Visually people with dysplasia may appear perfectly healthy, but its appearance differs in a number of specific features. Conventionally, people with this disease can be divided into two types: the first — a tall, stooped, thin, with protruding shoulder blades and collarbones, and the second — weak, fragile, small.

Among the complaints that patients describe doctor, worth noting:

• General weakness and malaise;
• Abdominal and headaches;
• Bloating, constipation, diarrhea;
• Improving blood pressure;
• Frequent relapses of chronic respiratory diseases;
• Muscle hypotonia;
• Poor appetite and weight loss;
• Shortness of breath at the slightest exercise.

A connective tissue dysplasia show other symptoms. Adult patients are predominantly asthenic physique, with eye-catching pathologies of the spine (scoliosis, kyphosis, lordosis) deformity of the chest or lower extremities (valgus foot). Often in people with dysplasia of the pronounced disproportion of the size of the foot or brush against the growth. Hypermobility of the joints – also a sign of a pathologically formed connective tissue. Children with dysplasia often demonstrate to their peers “talents”: bend the fingers at 90°, unbend the elbow or knee joint, painlessly pulls the skin of forehead, back of the hand and other places.

Possible complications

The Disease has a negative impact on the whole organism and health of the person. In children with dysplasia often slows the growth of the upper and lower jaws, disturbances occur in the work of the organs of vision (developing myopia, angiopathy of the retina). From the vascular system are also possible complications such as varicose veins, increasing fragility and permeability of blood vessels.

Diagnostic procedure

To Recognize the syndrome of connective tissue dysplasia experienced professionals capable of after the first examination of the patient. However, for the production of official diagnosis doctor will send the patient to the passage of a number of studies. Then, guided by expert opinions and results of necessary tests, the doctor will be able to put an end to the definition of the disease and prescribe treatment.

To Establish the correct diagnosis prevent the symptoms of diverse connective tissue dysplasia. In addition to laboratory tests, the patient will have to go:

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