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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 are the skin signs of NF-2?

Café-au-lait macules (usually fewer than six) occur in approximately half the affected individuals. Cutaneous schwannomas (mean number seven) occur in two thirds, presenting as soft, raised, hypertrichotic areas or subcutaneous spherical tumors along peripheral nerves.