EXCLUSIVE NODULAR PLEXIFORM NEUROFIBROMAS - AN EXCEPTIONAL TYPE-1 NEUROFIBROMATOSIS FORM

Introduction. Type 1 neurofibromatous rumours (NF) are benign skin tum ours which include cutaneous, subcutaneous and plexiform neurofibromas . Plexiform neurofibromas are either diffuse or nodular, the latter fo rm being much more frequent. Case report. We observed a particular for m of neurofibroma in an 18-year-old patient who developed large deep s ubcutaneous which histology examination revealed to be exclusively nod ular plexiform neurofibromas. The patient also had 6 cafe au lait spot s leading to the diagnosis of sporadic NF 1. He did not have acoustic neuronoma, schwannoma or posterior cataract, eliminating NF 2. Comment s. In NF 1, subcutaneous neurofibromas develop in 5 p. 100 of the pati ents. These lesions are termed nodular plexiform neurofibromas when th ey form long formations along nerve branches. The exclusive nature of the nodular plexiform neurofibromas in our case was exceptional. It co uld be hypothesized that the particular phenotype in our patient might correspond to a particular anomaly of the NF 1 gene.