Genodermatoses â pathogenesis and molecular diagnostics

Abstract

Genetically determined skin diseases, genodermatoses, are a group of rare disorders characterized by heterogeneous clinical course, prognosis and complex molecular pathology. In Epidermolysis Bullosa (EB) and Mendelian disorders of cornification (MeDOC) epidermal dysfunction occurs. Mutations in several dozen genes have been identified to be responsible for clinical symptoms of EB and MeDOC, which, in general, include: tendency to blister formation with skin fragility and abnormal keratinization, respectively. However, clinical symptoms of these diseases can be variable and genotype-phenotype correlations are only partially determined. Molecular diagnostics aimed at identification of mutations in affected individuals enables verification of clinical diagnosis, calculation of disease recurrence risk in other family members and, gradually, is also the basis for new therapies development. Nevertheless, even modern molecular technologies allow mutation detection in 80% of patients only. Hence, further, interdisciplinary scientific research are needed in order to increase detection rate and develop effective therapies.