phakomatoses

• neurofibromatosis (von Recklinghausen)
• tuberous sclerosis (Bourneville)
• encephalo-trigeminal angiomatosis (Sturge-Weber-Dimitri)

• retino-cerebellar hemangioblastoma (von Hippel-Lindau)
• neurocutaneous melanosis
• ataxia-telangiectasia

all autosomal dominant except ataxia-telangiectasia
wide range of penetrance and expressivity
high rate of sporadic cases (spont. mutation)

© 2002, C.E. Kahn, Jr.
2002-04-18