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CASE REPORT
Year : 2019  |  Volume : 33  |  Issue : 3  |  Page : 161-163

Atypical presentation with malignant transformation in neurofibromatosis Type 1 and strategies for managing neuropathic pain


Department of Onco-Anaesthesia and Palliative Medicine, Dr. BRAIRCH, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Dr. Rakesh Garg
Room No 139, First Floor, Department of Onco-Anaesthesia and Palliative Medicine, Dr. BRAIRCH, All India Institute of Medical Sciences, Ansari Nagar, New Delhi - 110 029
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpn.ijpn_26_19

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Pain is considered as a vital parameter for any patient management. Type I neurofibromatosis (NF-1) is an autosomal dominant neurocutaneous disorder caused by loss-of-function mutations in the NF-1 gene. The presence of severe pain is an atypical feature of NF-1, and the possibility of malignant transformation with the development of a malignant peripheral nerve sheath tumor (MPNST) should be considered in such situation. These tumors are universally foreshadowed by the onset of severe pain. The present treatment options that can be used in the management of these patients have not been well described in the available literature. We report a case of NF-1 with atypical pain, its malignant transformation, and its management. This case report is unique as it attempts to correlate the mechanism and target therapeutic options in the management of pain in patients of NF with MPNST. We conclude by emphasizing that various available options for management of pain should be employed after understanding the pathophysiology behind the occurrence of pain in a clinical setting. Treatment of malignancy and management of pain should be done simultaneously.


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