ABSTRACT
In the last 26 years, from the drafting of the diagnostic criteria in 1986, medical knowledge on this disease has naturally improved, thanks to the molecular analysis that today has reached a detection rate of around 95%. Thus, there is an increasing need for a critical review of the diagnostic approach to this genodermatosis in order to formulate the right diagnosis and to assess a specific follow-up as early as possible. In our clinical experience, we observed a number of new findings that could help in an earlier diagnosis and, while waiting for a new consensus conference, we propose here our point of view.
