Genodermatoses

Abstract

Genodermatoses comprise a clinically-heterogeneous group of mostly devastating disorders affecting the skin. The inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. The discovery of pathogenic mutations in inherited skin diseases represents one of the major landmarks of late twentieth century molecular genetics. Mutation data can provide accurate diagnosis, improve genetic counseling, help define disease mechanisms, establish disease models, and provide a basis for translational research and testing of novel therapeutics. To date, treatment options have in general been limited to symptomatic relief. However, the recent technical evolution in genome editing has ushered in a new era in the development of causal therapies for rare monogenetic diseases such as genodermatoses. In this chapter, the main genodermatoses of significance in dermatology have been addressed.