- Neurofibromatosis is
a common autosomal dominant hereditary disease with involvement of multiple
organs including skin, nervous system and endocrine glands
- Pathogenesis remains
obscure. Cells derived from neural crest (ex. melanocytes, Schwann cells)
proliferate excessively in multiple foci giving rise to benign tumors/nodules
- Hyperpigmentation of
skin (Café-au-Lait spots) and the presence of cutaneous and subcutaneous tumors
usually form the basis of diagnosis. Lisch's nodules, small whitish hamartomas
in the iris, are also a characteristic finding.
- Subcutaneous neurofibromas
may present as soft nodules along a peripheral nerve, but may arise from cranial
or spinal nerve roots (below)
