Type 1 neurofibromatosis (NF1), also known as von Recklinghausen
disease, is the most common phakomatosis. It is an autosomal dominant genetic disorder caused by a mutation of the NF1 gene, located
on chromosome 17. The disease is mainly characterized by the presence of cutaneous, plexiform, or spinal neurofibromas, as well as a
predisposition to the development of various tumors, including gastrointestinal stromal tumors (GISTs).
DOI: 10.55920/IJCIMR.2024.04.001166