Врожденный ихтиоз: клинико-генетические характеристики заболевания

Врожденный ихтиоз — группа (почти 100 клинических вариантов) редких генетических кожных заболеваний, возникающих в результате патогенных изменений в более чем 50 генах. Клиническими признаками, характеризующими ихтиоз независимо от генетической основы, являются сухость кожи, шелушение, гиперкератоз, часто сочетающиеся с эритродермией. Больные имеют чрезвычайно низкое качество жизни вследствие изменения внешнего вида, дискомфорта в связи с зудом и функциональными ограничениями (боль при ходьбе, нарушение моторики и двигательной функции по причине развития очагов гиперкератоза в функционально значимых зонах), а также нарушения функций различных органов и систем при синдромальных формах заболевания. Пациенты нуждаются в ежедневном уходе за кожей и приеме системных препаратов. До настоящего времени не существует эффективных методов лечения ихтиоза. Диагностические трудности при определении клинических форм врожденного ихтиоза обусловлены, с одной стороны, их клинической гетерогенностью, а с другой — сходством внешних проявлений. Трудности дифференциальной диагностики с другими дерматозами особенно актуальны при синдромальной форме заболевания. В настоящем обзоре представлена современная классификация ихтиозов, приведены данные о клинико-генетических вариантах заболевания, диагностических алгоритмах, принятых подходах к терапии больных с этим тяжелым недугом.

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