phacomatosis

phac·o·ma·to·sis

(fak'ō-mă-tō'sis),
A generic term for a group of hereditary diseases characterized by hamartomas involving multiple tissues; for example, von Hippel-Lindau disease, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis. Patients with phacomatosis may develop pheochromacytomas.
Synonym(s): phakomatosis
[Van der Hoeve's coinage fr. G. phakos, mother-spot]
Farlex Partner Medical Dictionary © Farlex 2012

pha·co·ma·to·sis

(fak'ō-mă-tō'sis)
A generic term for a group of hereditary diseases characterized by hamartomas involving multiple tissues (e.g., von Hippel-Lindau disease, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis).
Synonym(s): phakomatosis.
[Van der Hoeve's coinage fr. G. phakos, mother-spot]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
References in periodicals archive ?
This autosomal dominant phacomatosis characterised by the development of hamartomas in multiple organs classically presents with a triad of epilepsy, mental retardation, and adenoma sebaceum [6].
[4] Ambler et al classified LDD with other phacomatosis as a developmental disorder of cell growth.
theophylline, doxapram), local anesthetic (lignocaine toxicity) injection into scalp and phacomatosis (e.g.
schizencephaly, histiogenesis lissencephaly, polymicrogyria); phacomatosis (e.g.
They are linear sebaceous nevus syndrome and phacomatosis pigmentokeratotica.