Abstract
Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the formation and normal functioning of a lipid barrier, lead to the development of autosomal recessive congenital ichthyosis (ARCI). ARCIs are characterized by varying degrees of hyperkeratosis and the presence of scales on the body surface since birth. The quality of life of patients is often significantly affected, and in order to alleviate the manifestations of the disease, symptomatic therapy with moisturizers, keratolytics, retinoids and other cosmetic substances is often used to improve the condition of the patients’ skin. Graft transplantation is commonly used to correct defects of the eye. However, these approaches offer symptomatic treatment that does not restore the lost protein function or provide a long-term skin barrier. Gene and cell therapies are evolving as promising therapy for ARCIs that can correct the functional activity of altered proteins. However, these approaches are still at an early stage of development. This review discusses current studies of gene and cell therapy approaches for various types of ichthyosis and their further prospects for patient treatment.
Highlights
Ichthyosis is a heterogeneous group of diseases, both hereditary and acquired, characterized by dry, rough skin with noticeable scaling, covering large parts of the body [1].The development of acquired ichthyosis is associated with malignant neoplasms, autoimmune, metabolic, endocrine and infectious diseases [2]
We are using the classification accepted at First Ichthyosis Consensus Conference in Sorèze in 2009 [3], with the addition of information on mutations associated with the development of ichthyosis described since 2010
An umbrella term autosomal recessive congenital ichthyosis (ARCI) is used to describe a heterogenous group of ichthyoses induced by germline mutations in at least ten genes
Summary
Ichthyosis is a heterogeneous group of diseases, both hereditary and acquired, characterized by dry, rough skin with noticeable scaling, covering large parts of the body [1]. The development of acquired ichthyosis is associated with malignant neoplasms, autoimmune, metabolic, endocrine and infectious diseases [2]. The heterogeneous manifestation of ichthyosis leads to difficulties in diagnosis and confusion in terminology in different countries. We are using the classification accepted at First Ichthyosis Consensus Conference in Sorèze in 2009 [3], with the addition of information on mutations associated with the development of ichthyosis described since 2010. An umbrella term autosomal recessive congenital ichthyosis (ARCI) is used to describe a heterogenous group of ichthyoses induced by germline mutations in at least ten genes. Mutations in arachidonate 12-lipoxygenase, 12R type (ALOX12B), arachidonate lipoxygenase 3 (ALOXE3), NIPA-like domain containing 4 (NIPAL4)/ichthyin, patatin like phospholipase domain containing 1 (PNPLA1) and cytochrome P450 family 4 subfamily F member 22 (CYP4F22)
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