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Undifferentiated connective tissue dysplasia
Last reviewed: 23.04.2024
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Undifferentiated connective tissue dysplasia is not a single nosological unit, but a genetically heterogeneous group, a complex of multifactorial diseases, the pathogenetic basis of which is the individual features of the genome; the clinical manifestation is provoked by the action of damaging conditions of the external environment (intrauterine factors, nutritional deficiencies). In the literature, there are many variants of the designations for undifferentiated connective tissue dysplasia: mesenchymal insufficiency, mesenchymosis, MASS-phenotype, connective tissue dysplasia of the heart, joint hypermobility syndrome, hematomesenchymal dysplasia, etc. All these terms emphasize the private aspects of the common problem of hereditary weakness of connective tissue. Clinically, such children are observed in various narrow specialists who prescribe each of their treatment, sometimes untimely and not giving the desired effect.
Due to the lack of accurate diagnosis, the population frequency of undifferentiated connective tissue dysplasia has not been studied, but they are found to be much more often of differentiated forms.
What causes undifferentiated connective tissue dysplasia?
The disease is multifactorial, often associated with an anomaly of collagen or other connective tissue proteins (elastin, fibrillin, collagenases). In the synthesis of 27 types of collagen, 42 genes are involved, more than 1,300 mutations are described in 23 of them. The variety of mutations and their phenotypic manifestations complicates the diagnosis. Given the wide representation of connective tissue in the body, this group of disorders often complicates the course of diseases of organs and systems.
Symptoms of undifferentiated connective tissue dysplasia
Phenotypic signs of connective tissue dysplasia:
- constitutional features (asthenic physique, lack of mass);
- the actual DST syndrome (abnormalities of the facial skull and skeleton, limbs, including kyphoscoliosis, chest deformity, hypermobility of the joints, hyperelasticity of the skin, flat feet);
- small developmental anomalies, which in themselves have no clinical significance, but act as stigma.
A close relationship between the number of external hair dryers, the degree of severity of external dysplastic disorders and changes in the connective tissue framework of internal organs is established - the internal phenotypic signs of the syndrome.
Classification of undifferentiated connective tissue dysplasia
There are 10 dysplastic syndromes and phenotypes: marfan-like appearance; marfan-like phenotype; MASS phenotype (Mitral valve, Aorta, Skeleton, Skin), primary mitral valve prolapse; aners-like phenotype (classical or hypermobile); benign hypermobility of the joints; unclassifiable phenotype DST; increased dysplastic stigmatization; increased dysplastic stigmatization with predominantly visceral manifestations. Differences in the clinical symptoms of individual syndromes and phenotypes with different prognostic significance were revealed. Unclassified phenotype and increased dysplastic stigmatization have minimal clinical manifestations and are close to the variants of the norm (Zemtsovsky EV, 2007).
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Diagnosis of undifferentiated connective tissue dysplasia
Generally accepted algorithms for diagnosing undifferentiated connective tissue dysplasia are absent. The complexity of diagnosis is exacerbated by the lack of an accurate definition of the nature and quantity (specificity) of the symptoms. The peak of diagnosis is in the senior school age. Prognostic factors of genealogical anamnesis for the formation of NDT are signs of DST in relatives of I and II degrees (deformities of the chest, prolapses of the heart valves, hypermobility of the joints, hyperextension and thinning of the skin, spine pathology, myopia). The data of pedigrees testify to the accumulation in the family of pathology related to DST: osteochondrosis, polyarthritis, varicose veins, hernias, hemorrhagic diseases. The presence of hypermobility of the joints can often be established with blood relatives.
What do need to examine?
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What tests are needed?
Treatment of undifferentiated connective tissue dysplasia
Joint observation by a pediatrician, orthopedist. A diet rich in trace elements; exercise therapy, massage, manual therapy; vitamin-mineral (Supradin, Duovit, Oligovit, Complivit) amino acid complexes, calcium preparations (calcium-D3-Nycomed \ Kaltsimaks), magnesium (SaMghelat, Magnerot, magnesium 6 ) chondroitin inwards and locally trophic therapy. Recommend the course appointment of vitamins E, C, B 6 in therapeutic doses, preparations of polyunsaturated fatty acids (omega-3, suprema oil, azelikaps), potassium (panangin), ATP, riboxin. Therapy depends on the leading clinical manifestations on the part of organ systems.
The prognosis is favorable, with age the manifestations decrease.