![]() ![]() A number of patients experience psychological discomfort, difficulties with socialization. Isolated skin manifestations of hyperkeratosis give negative consequences in the form of a cosmetic defect. The activity of X-linked ichthyosis depends on the season: the disease worsens in the cold season, with high humidity. ![]() The skin resembles a snake’s coat due to cracks, uneven coloring of scales. Less often, elements of genodermatosis are observed on the trunk, in the popliteal pits. Typical localization of hyperkeratosis: the posterior surface of the neck (a symptom of a “dirty neck”), elbow joints, the outer surface of the forearms. At the same time, the scales are firmly bound to the skin, they cannot be removed during hygienic procedures. After 3-4 months, they acquire a grayish or brown color, becoming similar to dirt. On the child’s body, thin, non-pigmented scales of irregular shape become noticeable, which slightly adhere to the skin, are quite easily removed by mechanical action. SymptomsĬlinical manifestations of ichthyosis occur in the first months of a child’s life. However, the proliferation of keratinocytes is not impaired. Such changes provoke retention hyperkeratosis: connections between keratinized cells are strengthened, the normal process of desquamation of keratinocytes is disrupted. Ichthyosis of the X-linked monogenic type is characterized by the insufficiency of this enzyme, as a result of which the level of CSO4 in the epidermis increases, the activity of epidermal sterol proteases is inhibited. A sufficient level of these substances is necessary for regular exfoliation of keratinized cells, self-renewal of the skin. Normally, the enzyme hydrolase (sterol sulfatase) is present in the stratum corneum, which controls the production of steroid sulfates – cholesterol sulfate CSO4, sulfated steroid hormones. Pathological skin changes are caused by disorders of lipid metabolism in the epidermal layer. And finally, in extremely rare cases when both parents suffer from ichthyosis linked to the X chromosome, all children will also be sick. All the sons of a woman with hereditary hyperkeratosis and a healthy man will be born sick, and the daughters will be carriers of the disease. A monogenic anomaly is inherited using an X-linked recessive transmission mechanism: in a marriage of a mother who is a healthy carrier of a mutant gene with a healthy man, in accordance with Mendel’s laws, 25% of sons are likely to be born sick, 25% are healthy, 25% of daughters are likely to be healthy, 25% are carriers of a mutant gene.Ĭhildren from the marriage of a healthy woman with a sick man will be clinically healthy, but all daughters will be carriers of a linked hereditary disease. The disease is caused by a point mutation in the steroid sulfatase (STS) gene, which is located on the short arm of the X chromosome at the Xp22 locus.3. Pathology is not dangerous or fatal, but it is highly common, requires proper supportive treatment, which determines its relevance in modern dermatology. Given the type of inheritance, mostly men are ill, and most women are asymptomatic carriers of the affected gene. The disease was isolated in a separate form in 1960, occupies the second place in the structure of all types of ichthyosis, second only to ichthyosis vulgaris, and is registered with a frequency of 1:2000-1:6000. Recessive X-linked ichthyosis (RXLI) belongs to the group of mendelian (inherited according to Mendelian laws) keratinization disorders. Q80.1 X-linked ichthyosis General information ![]()
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