Term: phacomatosis (often called neurocutaneous syndromes)
Literally meaning: “tumor of lenses”
Origin: Anc Greek
φακός/phacos(=lens, spot) >φάος/phaos(=light)
+(-ωμα)/-oma (suffix denoting “mass growth” or a “complete set of”)
1878 – 1952), who initially had included retinal hamartomas and later the tuberous sclerosis, the neurofibromatosis, and the cerebroretinal angiomatosis (von Hippel-Lindau disease). The term “phakomatosis” became inappropriate when Van der Hoeve included encephalotrigeminal angiomatosis (Sturge-Weber syndrome) which is not characterized by phakomas or hamartomas. Etymologically, this term also is inadequate to encompass this entire group because it does not include the nervous system. In any case, its use should be reserved to those conditions which manifest retinal hamartomas (“phakomas”), as in the original description.
A generic term for of hereditary diseases characterized by the development of benign tumors consisting of a disorganized tissue mass of surrounding tissues (hamartomas) in the central nervous system that additionally result in lesions on the skin and the eye.