Genetics

Abstract

Owing to advances in molecular biology, genetic aspects of skin diseases have gained new importance in recent years. Genodermatoses are the focus of interest as they serve as models for gaining deeper insights into the physiological and pathological processes of the skin. Numerous genodermatoses have already been mapped on human chromosomes. Health or disease are the result of environmental influences and genetic predisposition. Monogenic diseases are strongly phenotypically characterized by the mutation of a single gene. However, not only neighboring genes or mutations in an additional gene but also epigenetic influences may modify the phenotype. According to the WHO, there are about 10,000 monogenic diseases and for 1000 different entities, molecular genetic testing is already possible. Genodermatoses in the age of digital documentation are well characterized today and the most important genetic database can be accessed via Google with the keyword OMIM, which is an abbreviation for Online Mendelian Inheritance of Man. In the following chapter, the basic concepts of genetics are explained and illustrated with individual examples.