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Updated: Aug 25, 2025
Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
Ankle Swelling in Patients With Type 1 Neurofibromatosis: A Report of Two Cases With Rare Presentation of Common
Irene N Thomas1, Amutha Balasundaram2, Joseph Jenson James1
1Department of Dermatology, Sri Sathya Sai Medical College and Research Institute, Ammapettai, IND.
Abstract:
Neurofibromatosis type 1 is characterized by multiple cutaneous neurofibromas of varying sizes along with skeletal, neurologic, and ophthalmic features. Solitary swellings in neurofibromatosis type 1 are not commonly encountered except in the form of plexiform neurofibromas. We report two cases with neurofibromatosis type 1 presenting with solitary swelling in the ankles which were proven to be the diffuse type of neurofibroma, radiologically and histopathologically. Diffuse type neurofibroma presenting as ankle swelling in type 1 neurofibromatosis has not been reported before.
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