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Neurocutaneous Disorders

Neurofibromatosis
»	What are the two main forms of neurofibromatosis?
»	Outline the diagnostic criteria for NF-1.
»	Where is the gene for NF-1 located? What protein does it encode?
»	What is the earliest skin sign of NF-1?
»	What is Crowe’s sign? When does it develop?
»	When do peripheral neurofibromas appear in NF-1?
»	What is a plexiform neurofibroma?
»	What are Lisch nodules?
»	What is the most common central nervous system (CNS) tumor occurring in NF-1?
»	How common is intellectual impairment in NF-1?
»	What are the most common skeletal abnormalities in NF-1?
»	How frequently should patients with NF-1 be assessed? What should this assessment include?
»	What are the diagnostic criteria for NF-2?
»	Where is the gene for NF-2? What is the gene product?
»	What are the most common presenting symptoms of NF-2?
»	What are the skin signs of NF-2?
»	What is the ocular sign of NF-2?

What is the most common central nervous system (CNS) tumor occurring in NF-1?

Optic glioma occurs in 15% of patients, usually before 6 years of age. Two percent of affected individuals develop other CNS neoplasms including astrocytomas, schwannomas, and hamartomas. Epilepsy occurs in 6% of patients, often due to these underlying focal lesions.

Friedman JM, Birch PH: Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1728 patients, Am J Med Genet 70:138–143, 1997.