Autosomal recessive congenital ichthyosis: diagnosis, modeling and approaches to therapy

Abstract

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases caused by mutations in at least ten genes. ARCI is characterized by varying degrees of hyperkeratosis and the presence of scales on the surface of the patients’ skin since birth. Despite the variety of mutations and phenotypic manifestations of ARCI, from 32 to 68% of cases are due to a mutation in the transglutaminase-1 gene.

Currently, ARCI therapy is aimed at reducing the symptoms of the disease. To alleviate clinical symptoms, symptomatic therapy with moisturizers, keratolytics, retinoids and other cosmetic substances that improve the condition of the patients' skin is used.

There is a great need for the development of therapy aimed at the root cause of the development of the ARCI. Graft transplantation is usually used to correct eyelid defects in ARCI. Gene and cell therapy are developing as promising methods for the treatment of ARCI, with the help of which it is possible to correct the functional activity of mutant genes, in particular, transglutaminase-1. The review discusses current research on gene and cell therapy approaches and their future prospects in the treatment of patients with various forms of ichthyosis.

Keywords

autosomal recessive congenital ichthyosis / lamellar ichthyosis / transglutaminase-1 / gene therapy / cell therapy

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