Presence of malignant peripheral nerve sheath tumor in a patient with diffuse neurofibromatosis-1; A rare case report

Abstract

Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft tissue sarcomas, that impact approximately 0.001 of the population. Individuals with neurofibromatosis type 1 (NF1) have a 10 lifetime risk of developing these tumors, which account for up to 50 of all MPNST cases. A 49-year-old woman with diffuse NF1 was examined for a painful, growing, and hemorrhagic ankle lesion that had existed from the age of two. The mass was excised using Mohs surgery, and the pathology revealed a malignant peripheral nerve sheath tumor. This study presented a case of neurofibromatosis type 1, which was distinguished by a rare extent of lesion involvement throughout the body. The emergence of such a tumor in this condition is infrequent, even according to existing literature, making it a remarkable observation for expert dermatologists. © Iranian Journal of Dermatology.