neurofibromin gene
Autosomal dominant
Neurofibromatosis (von Recklinghausen disease)
Autosomal dominant disorder.
Characterized by:
1. Cafe-au-lait spots on skin (melanocytes also function abnormally in this disease)
2. Neurofibromas of the skin or peripheral nerves.
3. Oral involvement in 70% of cases
4. Visceral involvement
5. Acoustic nerve tumours
6. Plexiform neurofibromas - the branches of trigeminal nerve.
7. Elephantiasis neuromatosa -massive enlargement of a limb
8. Lisch nodules in the iris of the eye in 90%
9. Skeletal deformities such as kyphoscoliosis .
10. 10% of persons affected by Neurofibromatosis will develop cancer