Neurofibrosarcoma - complicating neurofibromatosis-I: case report and review of relevant literature.

SUMMARY: Neurofibromatosis I is a multi systemic genetic and progressive disorder. Malignancy is one of the several complications and frequency of neurofibrosarcoma is significantly higher in NF-I patients. Neurofibromatosis was noted at 2 years after birth and overtime became malignant for which a below the knee amputation was done at the age of 29 years. Malignant transformation probably occurred prior to excision of the tumour at 26 years. Recurrence within 18 months is suggestive of inadequate excision and of a slow growing tumour. Diagnosis was missed despite previous presentation to other hospitals. This case presentation and review of literature highlights the need for early diagnosis and follow up, education of the patients and their families and the need for histological diagnosis for lesion removed to achieve overall improvement in morbidity and mortality. KEYWORDS: neurofibromatosis I, neurofibrosarcoma.