Summary

Genodermatoses are diseases with significant psychosocial impact despite being relatively rare conditions, with a reported incidence that varies between 1:6000 and 1:500,000 [1] and is continually increasing, most likely due to the development of more effective diagnostic methods.

Severity of the clinical expression of the genetic defects responsible for the occurrence of genodermatoses varies widely, with some cases taking the form of serious diseases that cause significant alteration of patients’ quality of life, as well as that of their families, and also reduce the patients’ life expectancy. Given the fact that genodermatoses are chronic, incurable diseases that are frequently associated with incapacitating disabilities and even with malignant degeneration potential, their management requires collaboration among members of a multidisciplinary team and a complex therapeutic regimen, which also demands considerable resources. Therefore, taking into account all these considerations, genodermatoses represent important public health issues.

In the current paper we present the results of a prospective and retrospective study conducted between 2013 and 2023 on a number of 253 newly diagnosed patients with various clinical forms of genodermatoses, admitted to Dermatology departments in Bucharest.