phakomatosis

Meanings

1. Any of a group of neurocutaneous disorders of the central nervous system causing lesions on the skin and eye.

Etymology

From phak- + -omato- + -osis, from the Greek φακός (phakós, “spot, lens”), -ωμα (-ōma, “process”), and the suffix -osis; the term was introduced by Dutch ophthalmologist Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood.