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Neurofibromatosis was described by von Recklinhausen in 1882. Neurofibromas may arise in any part of the body including axilla, thigh, buttock, deep lying soft tissue, orbit, mediastinum, retroperitoneum, tongue, gastrointestinal tract.

Plexiform Neurofibroma

Age: Usually occurs in children and young adults.

Site: Head and neck region

Clinical presentation: The expanded nerves form irregular, convoluted cords and nodules.

Gross: Plexiform neurofibroma is associated with

  1. hyperpigmented skin
  2. thickening of soft tissue
  3. hypertrophy of bone


Microscopic features:

  1. Nodules of tortuous, expanded nerve branches cut in various planes of section.
  2. There is prominent myxoid change. In some cases cells spill out from the nerve into the soft tissue.
  3. In early stage, the affected nerve displays increase in endoneurial matrix. In the late stage the nerve fibres are replaced by proliferation of Schwann cells together with thick wavy collagen bundles
  4. Presence of mitotic figures is indicative of malignancy.


Immunohistochemistry:

  1. Axon- Neurofilament positive
  2. Schwann cells- S100 protein positive
  3. Perineurial cells- EMA positive

Read a case about the TUMORMAN
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Tumorman and Pathology of Neurofibromatosis

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