Search
phakomatosis (phacomatosis)
Phakomatosis (phacomatosis) is a generic term for a group of hereditary diseases characterized by hamartomas involving multiple tissues:
1) von Hippel-Lindau syndrome
2) neurofibromatosis
3) Sturge-Weber syndrome
4) tuberous sclerosis
5) Peutz-Jeghers syndrome
Related
hamartomatous polyposis syndrome; familial hamartomatous polyposis
Specific
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
General
hereditary neoplastic syndrome; cancer susceptibility syndrome
References
Stedman's Medical Dictionary 24th ed, Williams &
Wilkins, Baltimore, 1982