Histologic diagnosis of ossifying fibromyxoid tumor: 2 cases in the past 20 Years.

In conclusion, BSI is a rare genodermatosis belonging to the group of ARCI. It has a series of clinical and diagnostic peculiarities that we should be aware of. Although the diagnosis is usually clinical, confirmation can only be made by genetic analysis of the TGM-1 gene. This is the only gene implicated in this condition, but its mutations are also the most prevalent in other forms of ARCI, and many of the mutations are common to the different forms; thus, individuals with the same genetic load can develop different phenotypes, and these can even be dynamic, with changes occurring during life. All these features are important with respect to the prognosis in our patients and to correct genetic counselling.