phakomatosis (phacomatosis)

Introduction

Phakomatosis (phacomatosis) is a generic term for a group of hereditary diseases characterized by hamartomas involving multiple tissues:

• von Hippel-Lindau syndrome
• neurofibromatosis
• Sturge-Weber syndrome
• tuberous sclerosis
• Peutz-Jeghers syndrome

More general terms

• hereditary neoplastic syndrome; cancer susceptibility syndrome

More specific terms

• neurofibromatosis (von Recklinghausen's disease)
• Peutz-Jeghers syndrome (hamartomatous intestinal polyposis)
• Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
• tuberous sclerosis (Bourneville disease, epiloia)
• von Hippel-Lindau disease

Additional terms

• hamartomatous polyposis syndrome; familial hamartomatous polyposis