Malignant Peripheral Nerve Sheath Tumor Arising from Neurofibromatosis

Neurofibromatosis type 1 (NF 1) is an inherited autosomal dominant disorder with an estimated incidence of 1 in 2,500 to 3,000 live births [1]. Neurofibromas are benign peripheral nerve sheath tumors developed from the proliferation of fibroblasts and Schwann cells. Wallac [2] categorized neurofibromas into four types: cutaneous neurofibromas of the epidermis or dermis, subcutaneous neurofibromas that are deeper than the dermis, deep nodular neurofibromas, and diffuse plexiform neurofibromas [2]. The World Health Organization uses the term malignant peripheral nerve sheath Neurofibromatosis can be diagnosed by a positive family history and certain characteristic cutaneous manifestations such as café-au-lait spots on the skin and soft tissue nodules. Furthermore, because bony overgrowth and fat deposition in subcutaneous tissues, tendons, muscles, and nerves with macrodactyly are specific diagnostic features of macrodystrophia lipomatosa, it can be differentiated from other diseases that can show similar clinical features. Surgical intervention is the treatment of choice for macrodystrophia lipomatosa. The main surgical principle in treating these lesions is to improve the cosmetic appearance while preserving the neurologic function as much as possible. Through judicious and planned multiple debulking operations and partial amputations, good results can be achieved. However, surgery should be delayed until the patient’s growth is complete if the deformity is not very serious and if no nervous system symptoms are present. Complications associated with overzealous debulking procedures can lead to nerve injury; the reported incidence ranges from 30% to 50%. A localized recurrence rate of 33% to 60% makes the management of macrodystrophia lipomatosa demanding [5]. In our case, we achieved a satisfactory outcome in terms of functional recovery and the aesthetic results using debulking and amputation. However, we will continue to follow this patient to evaluate whether the symptoms regress to a static lesion or not.