The stratum corneum of the epidermis acts as a life-sustaining permeability barrier. Unique
heterogeneous ceramides, especially ω-O-acylceramides, are key components for the …

T-helper (Th) 17 pathway resembling the immunophenotype of psoriasis and suggests a
potential therapeutic approach with anti-interleukin (IL)-17 therapy. 3 Furthermore, the …

Врожденный ихтиоз-группа (почти 100 клинических вариантов) редких генетических
кожных заболеваний, возникающих в результате патогенных изменений в более чем …

Background PNPLA1 is a causative gene of autosomal recessive congenital ichthyosis. The
transacylase PNPLA1 produces ω-O-acylceramides (acylceramides), lipids essential for the …

Background: Early infantile epileptic encephalopathy (EIEE) is a rare neurological condition
characterized by frequent seizures in the early stages of life, resulting in severely impaired …

Background Congenital ichthyosis is a diverse group of keratinization disorders associated
with generalized scaling of skin of varying severity. The non‐syndromic forms of congenital …

Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases
caused by pathogenic changes in more than 50 genes. Clinical features of ichthyosis …

Background Hereditary ichthyosis is a clinically and genetically heterogeneous disorder
associated with more than 50 genes with TGM1, ALOX12B, and ALOXE3 being the most …

Background: Ichthyosis is a diverse skin disease characterized by dry skin and itching,
particularly affecting the hands. Most forms of this condition are hereditary. Objectives: In this …