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Massive soft tissue diffuse neurofibroma of the lower limb without associated neurofibromatosis type1

Sushama R. Desai, Nanda J. Patil, Gaurav Jain, Shivaji B. Vanjare

Am J Case Rep 2011; 12:150-153

DOI: 10.12659/AJCR.882096

Abstract: Backgound: Neurofibromas are well-known benign nerve sheath tumors that can assume several gross forms, among which massive soft tissue neurofibromas are the least common, and are restricted to patients with neurofibromatosis type 1 (NF1). Of the histologic subtypes of neurofibromas, diffuse neurofibroma is the rarest subtype, occurring mainly in children and young adults. It may occur in skin and subcutaneous tissue or in soft tissue. The most common sites of involvement are the head, neck and trunk.
Case Report: We report a very rare case of diffuse soft tissue neurofibroma of the lower limb in an 11-year-old girl, presenting as massive soft tissue neurofibroma leading to elephantiasis of the right leg and which was not associated with neurofibromatosis type 1 (NF TYPE 1). To the best of our knowledge, such presentation of diffuse neurofibroma has not been documented in the existing literature until now.
Conclusions: We present this case for its unusual presentation and rarity.

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