USMLE

Von Recklinghausen Disease (NF I)

27,116 views
Autosomal Dominant Diseases
  1. Marfan Syndrome
  2. Li-Fraumeni Syndrome (LFS)
  3. Achondroplasia
  4. Job (Hyper IgE) Syndrome
  5. HHT
  6. Hereditary Spherocytosis
  7. von Hippel-Lindau (VHL)
  8. MEN 1
  9. MEN 2
  10. Von Recklinghausen Disease (NF I)
  11. Neurofibromatosis Type II (NF II)
  12. Myotonic Dystrophy
  13. ADPKD

Neurofibromatosis 1 (NF1), also known as von Recklinghausen Disease, is an autosomal dominant cancer syndrome that causes tumors to form in the brain, spinal cord, and nerves.

The disease is caused by a mutation of NF1 on chromosome 17, and if inherited, the disease is almost certain to appear (complete penetrance), although individual symptoms may vary (variable expressivity). Clinical features include cafe-au-lait spots, cutaneous neurofibromas, optic gliomas, Lisch nodules of the iris, and pheochromocytomas (presenting as episodic hypertension and headaches).

Find NF1 and more Autosomal Dominant Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.