Autosomal dominant, though can have variable expression (ie presentation and symptoms variable)
Types 1 (see below) and 2 (less common than 1; associated w/hearing loss and balance problems from acoustic schwannoma)
Risk Factors
Family history
Symptoms
Development of progressive sub-cutaneous growths or nodules in skin from young age; usually painless, though can have symptoms related to local compression/nerve irritation
Can transform into neurosarcoma (MPNST), with symptoms (pain, rapid growth) based on site of metastases (lung, liver, other deeper structures)
Cognitive problems, motor/sensory dysfunction, seizures can sometimes occur
Physical Exam Findings
Nodules
Cafe Au Lait spots
Axillary freckling
Lisch nodules: raised brown spots (from hamartomas) of iris; dont affect vision
Organ dysfunction and findings (e.g. lung, liver, bones) if malignant transformation and mets