| Abstrakt: |
Congenital ichthyoses (CI) are a group of rare inherited disorders that cause keratinization defects. This group includes hereditary ichthyosis and hereditary syndromes with ichthyosiform lesions. Official statistics are not yet available in Ukraine. The most common clinical manifestation is nonbullous hyperkeratosis characterized by thick hyperkeratotic scales, skin thickening, severe skin dryness and erythema. In more severe forms - ectropion, eclabion. Skin permeability is increased in CI patients, resulting in increased fluid and calorie loss, difficulty in thermoregulation, and reduced elasticity, which limits mobility. Symptoms can vary in severity, but severe manifestations at birth are not always indicative of a more severe course later in life. Challenges in definitive diagnosis are due to the need for karyotyping, which is quite expensive. Currently available treatment modalities include continuous moisturization, reduction of transepidermal water loss, control of hyperkeratotic layer thickness (reducing it to a minimum) with local keratolytics, emollients, and systemic retinoids in severe cases. The article presents a clinical case of successful local treatment of CI with a pronounced effect without the use of systemic retinoids. The publication of the materials has been approved by the Bioethics Commission of the CI «Regional Medical Center for Family Health» DRC». All anamnestic data, examination results and photographs are provided with prior written consent of the parents. Conclusion. Congenital ichthyoses require careful monitoring. The initial clinical manifestations can not be a marker for the severity of the disease course. [ABSTRACT FROM AUTHOR] |
