Connective tissue dysplasia is a hereditary collagenopathy in which the development of connective tissue is disturbed, and in the embryonic period. It is assumed that this systemic disease can develop in a child if the expectant mother was in an unfavorable environmental situation, had stress, malnutrition, did not part with bad habits. As a result, the child gets defects in collagen synthesis and, accordingly, problems with the functioning of internal organs, the musculoskeletal system.
It is assumed that connective tissue dysplasia is present to some extent in almost 60-70% of the population. This disease can cause asthenic syndrome, sudden death syndrome, clubfoot, joint instability, frequent dislocations, vascular fragility, muscle weakness and have many more clinical manifestations.
Connective tissue dysplasia can also be expressed by malocclusion, facial asymmetry, skin features – when it has increased extensibility, thin to translucent and easily vulnerable, and any seam on it looks like crumpled tissue paper.
Causes of connective tissue dysplasia and its symptoms
The reason for the development of connective tissue dysplasia is a violation of collagen synthesis. This function in the body is encoded by about 40 genes, so the disease has many manifestations. The reason for the appearance of gene mutations, due to which the structure of collagen changes, the synthesis of structural proteins and many important enzymes in the body is disrupted, scientists believe the harmful effects on the fetus in the womb.
The main mutagenic factors that play a role in the development of connective tissue dysplasia:
- unfavorable ecology;
- magnesium deficiency in the body of the expectant mother;
- complicated pregnancy;
- stress, poor diet, smoking and other bad habits of a pregnant woman.
Skin symptoms of connective tissue dysplasia:
- hyperelasticity or, conversely, increased fragility of the skin;
- increased dryness of the skin;
- increased tendency to form striae;
- multiple telangiectasias, hemangiomas;
- increased tendency to hypo- and hyperpigmentation.
Among other external signs of connective tissue dysplasia that help in diagnosis, one can note protruding ears and asymmetry of the ears, a low hairline on the forehead, muscular torticollis, frequent hernias.
Diagnosis and treatment of connective tissue dysplasia
Often, patients with connective tissue dysplasia are observed and treated by doctors of different specialties, since it is difficult to diagnose the disease due to the multiplicity of its manifestations.
Ultrasound and X-ray examination can often help to determine the true cause of the patient's problems, which will show characteristic multiple organ disorders and will allow talking about connective tissue dysplasia with a high degree of probability.
There is no specific treatment for connective tissue dysplasia. Patients are recommended health-improving physical activity, diet, exercise therapy, physiotherapy, massages.
Therapeutic measures include symptomatic therapy, taking metabolic drugs, vitamins, chondroprotectors, immunomodulating agents.
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