A review on the pathophysiology of nonsyndromic ichthyosis as an epidermal genodermatosis

Document Type : Review article


1 Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran

2 Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran

3 Department of Dermatology and Laser Surgery, Clinical Research Center, Rasoul-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran

4 Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran



Ichthyoses as epidermal genodermatoses are a large group of keratinization disorders that affect the entire integument, which is typically characterized by visible scaling and inflammation on the skin. Nowadays, in addition to clinical criteria, new molecular diagnostic methods, such as next-generation sequencing, can help to differentiate the subgroups of ichthyoses more precisely. These disorders are mostly classified based on clinical and histologic features and molecular markers. Inherited ichthyoses were divided into two groups: non-syndromic ichthyosis and syndromic ichthyosis. Non-syndromic ichthyosis is a group of various skin diseases with genetic and clinical heterogeneity. In this group, ichthyosis vulgaris and recessive X-linked ichthyosis are common and are often of delayed onset. Correct diagnosis of the molecular defects resulted from ichthyosis is useful for the prediction of the prognosis, genetic counseling (accurate risk assessment), prenatal diagnosis, and a better understanding of skin biology. However, the most essential and promising advantage of a precise molecular diagnosis is using gene therapy for its treatment, which may be considered as a subcategory of personalized medicine. This review is focused on the different aspects of non-syndromic ichthyoses pathophysiology.